Canonical Allele Identifier: CA775632295
Gene:

Linked Data

dbSNP Id: rs1209021492
gnomAD v3: 17-8137461-ATCTGTAAC-A
gnomAD v4: 17-8137461-ATCTGTAAC-A
MyVariant Identifiers: chr17:g.8040780_8040787del (hg19) chr17:g.8137462_8137469del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8137464_8137471del , CM000679.2:g.8137464_8137471del GRCh38
NC_000017.10:g.8040782_8040789del , CM000679.1:g.8040782_8040789del GRCh37
NC_000017.9:g.7981507_7981514del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_934202.1:n.183-1385_183-1378del
XR_934203.1:n.70-2013_70-2006del
XR_934202.2:n.414-1385_414-1378del
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