Canonical Allele Identifier: CA690907022
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

dbSNP Id: rs1239854692
gnomAD v3: 12-6470901-C-CTCCA
gnomAD v4: 12-6470901-C-CTCCA
MyVariant Identifiers: chr12:g.6580067_6580068insTCCA (hg19) chr12:g.6470901_6470902insTCCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6470902_6470905dup , CM000674.2:g.6470902_6470905dup GRCh38
NC_000012.11:g.6580068_6580071dup , CM000674.1:g.6580068_6580071dup GRCh37
NC_000012.10:g.6450329_6450332dup NCBI36
NG_042188.1:g.4995_4998dup
NG_042188.2:g.4995_4998dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000361716.7:c.-374_-371dup (VAMP1) ENSP00000355122.3:n.-374_-371dup
XR_001748777.2:n.2169_2172dup (TAPBPL)
XR_001748778.2:n.2166_2169dup (TAPBPL)
Search 100 bp 5'
Search 100 bp 3'