The Human Genomics Community
Some useful examples to help you get started
Germline Variants
rs746753722 or CLN6 E227K or NM_017882.3(CLN6):c.679G>A or 15:68500735:A:T
TP53:R175L or NM_000546:R175L or NM_000546(TP53):p.Arg175Leu or TP53:c.524G>T or chr17-7675088-C-A or rs28934578
BRAF:c.1799T>G, FTO:c.46-43098T>C,
SYNGR1:c.607_608insACA,
BAIAP2L2:c.1322_1363del
15-73027478-T-C, X 153418497 C G
Deletions
chr2:131129929:CTGAAA:, chr13:38320595:GT:, 5:156479558:15:
Insertions
chr22:39777823::CAA, 7-151945072--T
CNVs
chr17:37800000:L100000:DUP, chr11:21200000:L90000:DEL, chr7:117138367:117159446:DEL,
chr3:37039445:37059613:DUP, chr21:36160098:36171759:DEL, chr1:110230496:110235917:DUP,
chr21:36160098:36171759:DEL, chr17:43098764:43110978:DEL, chr13:32317656:32331987:DUP,
chr8:127734450:127764981:DUP, chr1:13308329:13308887:DEL
Single Reads - NGS or Sanger
Cancer Variants
with AMP classification
Genes
BRCA1, EGFR, HGNC:1097,
ENTREZ:1956, UNIPROT:B7ZA85
Transcripts
Transcript / Genomic Position
Source Databases