Canonical Allele Identifier: CA10604782
Gene: VAMP1 HGNC NCBI
TAPBPL HGNC NCBI

Linked Data

ClinVar Variation Id: 284396
ClinVar RCV Id: RCV000362183
dbSNP Id: rs886042861

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6466293del , CM000674.2:g.6466293del GRCh38
NC_000012.11:g.6575459del , CM000674.1:g.6575459del GRCh37
NC_000012.10:g.6445720del NCBI36
NG_042188.1:g.9611del
NG_042188.2:g.9611del

Transcript Alleles

HGVS Amino-acid change
ENST00000361716.8:c.65del (VAMP1) ENSP00000355122.3:p.Pro22LeufsTer7
ENST00000396308.4:c.65del (VAMP1) MANE Select ENSP00000379602.3:p.Pro22LeufsTer7
ENST00000361716.7:c.65del (VAMP1) ENSP00000355122.3:p.Pro22LeufsTer7
ENST00000396308.3:c.65del (VAMP1) ENSP00000379602.3:p.Pro22LeufsTer7
ENST00000400911.7:c.65del (VAMP1) ENSP00000383702.3:p.Pro22LeufsTer7
ENST00000535180.5:c.65del (VAMP1) ENSP00000444181.1:p.Pro22LeufsTer7
ENST00000535927.5:n.149-289del (VAMP1)
ENST00000539047.1:n.211del (VAMP1)
ENST00000544432.5:n.86-289del (VAMP1)
ENST00000545700.5:n.2120del (TAPBPL)
NM_001297438.1:c.65del (VAMP1) NP_001284367.1:p.Pro22LeufsTer7
NM_014231.4:c.65del (VAMP1) NP_055046.1:p.Pro22LeufsTer7
NM_016830.3:c.65del (VAMP1) NP_058439.1:p.Pro22LeufsTer7
NM_199245.2:c.65del (VAMP1) NP_954740.1:p.Pro22LeufsTer7
NR_123717.1:n.371-289del (VAMP1)
XR_001748777.2:n.1679-758del (TAPBPL)
XR_001748778.2:n.1679-761del (TAPBPL)
NM_001297438.2:c.65del (VAMP1) NP_001284367.1:p.Pro22LeufsTer7
NM_014231.5:c.65del (VAMP1) MANE Select NP_055046.1:p.Pro22LeufsTer7
NM_016830.4:c.65del (VAMP1) NP_058439.1:p.Pro22LeufsTer7
NM_199245.3:c.65del (VAMP1) NP_954740.1:p.Pro22LeufsTer7
NR_123717.2:n.149-289del (VAMP1)