Canonical Allele Identifier: CA2014088535

Gene: VAMP1 TAPBPL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6465899_6465900del , CM000674.2:g.6465899_6465900del	GRCh38
NC_000012.11:g.6575065_6575066del , CM000674.1:g.6575065_6575066del	GRCh37
NC_000012.10:g.6445326_6445327del	NCBI36
NG_042188.1:g.10002_10003del
NG_042188.2:g.10002_10003del

Transcript Alleles

HGVS	Amino-acid Change
NM_014231.5:c.232_233del (VAMP1) MANE Select	NP_055046.1:p.Gln78IlefsTer2
ENST00000396308.4:c.232_233del (VAMP1) MANE Select	ENSP00000379602.3:p.Gln78IlefsTer2
NM_001297438.1:c.232_233del (VAMP1)	NP_001284367.1:p.Gln78IlefsTer2
NM_001297438.2:c.232_233del (VAMP1)	NP_001284367.1:p.Gln78IlefsTer2
NM_014231.4:c.232_233del (VAMP1)	NP_055046.1:p.Gln78IlefsTer2
NM_016830.3:c.232_233del (VAMP1)	NP_058439.1:p.Gln78IlefsTer2
NM_016830.4:c.232_233del (VAMP1)	NP_058439.1:p.Gln78IlefsTer2
NM_199245.2:c.232_233del (VAMP1)	NP_954740.1:p.Gln78IlefsTer2
NM_199245.3:c.232_233del (VAMP1)	NP_954740.1:p.Gln78IlefsTer2
NR_123717.1:n.473_474del (VAMP1)
NR_123717.2:n.251_252del (VAMP1)
ENST00000361716.7:c.232_233del (VAMP1)	ENSP00000355122.3:p.Gln78IlefsTer2
ENST00000361716.8:c.232_233del (VAMP1)	ENSP00000355122.3:p.Gln78IlefsTer2
ENST00000396308.3:c.232_233del (VAMP1)	ENSP00000379602.3:p.Gln78IlefsTer2
ENST00000400911.7:c.232_233del (VAMP1)	ENSP00000383702.3:p.Gln78IlefsTer2
ENST00000535180.5:c.232_233del (VAMP1)	ENSP00000444181.1:p.Gln78IlefsTer2
ENST00000535927.5:n.251_252del (VAMP1)
ENST00000538970.5:n.151_152del (VAMP1)
ENST00000539047.1:n.378_379del (VAMP1)
ENST00000544432.5:n.188_189del (VAMP1)
ENST00000545700.5:n.1726_1727del (TAPBPL)
XR_001748777.2:n.1679-1152_1679-1151del (TAPBPL)
XR_001748778.2:n.1679-1155_1679-1154del (TAPBPL)