Canonical Allele Identifier: CA232348394
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs745751286
gnomAD v4: 12-6470901-CT-C
MyVariant Identifiers: chr12:g.6580068del (hg19) chr12:g.6470902del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470902del , CM000674.2:g.6470902del GRCh38
NC_000012.11:g.6580068del , CM000674.1:g.6580068del GRCh37
NC_000012.10:g.6450329del NCBI36
NG_042188.1:g.4998del
NG_042188.2:g.4998del

Transcript Alleles

HGVS Amino-acid Change
ENST00000361716.7:c.-371del (VAMP1) ENSP00000355122.3:n.-371del
XR_001748777.2:n.2169del (TAPBPL)
XR_001748778.2:n.2166del (TAPBPL)
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