Canonical Allele Identifier: CA944348334

Gene: VAMP1 TAPBPL

Linked Data

• dbSNP Id: rs1945758786
• gnomAD v3: 12-6470860-CTGT-C
• gnomAD v4: 12-6470860-CTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6470861_6470863del , CM000674.2:g.6470861_6470863del	GRCh38
NC_000012.11:g.6580027_6580029del , CM000674.1:g.6580027_6580029del	GRCh37
NC_000012.10:g.6450288_6450290del	NCBI36
NG_042188.1:g.5037_5039del
NG_042188.2:g.5037_5039del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361716.7:c.-332_-330del (VAMP1)	ENSP00000355122.3:n.-332_-330del
NM_001297438.1:c.-332_-330del (VAMP1)	NP_001284367.1:n.-332_-330del
NM_014231.4:c.-332_-330del (VAMP1)	NP_055046.1:n.-332_-330del
NM_016830.3:c.-332_-330del (VAMP1)	NP_058439.1:n.-332_-330del
NM_199245.2:c.-332_-330del (VAMP1)	NP_954740.1:n.-332_-330del
NR_123717.1:n.37_39del (VAMP1)
XR_001748777.2:n.2128_2130del (TAPBPL)
XR_001748778.2:n.2125_2127del (TAPBPL)