Canonical Allele Identifier: CA2573052004

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70960002del , CM000664.2:g.70960002del	GRCh38
NC_000002.11:g.71187132del , CM000664.1:g.71187132del	GRCh37
NC_000002.10:g.71040640del	NCBI36
NG_008016.1:g.29135del

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.509del (ATP6V1B1) MANE Select	NP_001683.2:p.Pro170LeufsTer5
ENST00000234396.10:c.509del (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Pro170LeufsTer5
NM_001692.3:c.509del (ATP6V1B1)	NP_001683.2:p.Pro170LeufsTer5
ENST00000234396.8:c.509del (ATP6V1B1)	ENSP00000234396.4:p.Pro170LeufsTer5
ENST00000412314.5:c.509del (ATP6V1B1)	ENSP00000388353.1:p.Pro170LeufsTer5
ENST00000432098.1:c.149del (ATP6V1B1)	ENSP00000387599.1:p.Pro50LeufsTer5
ENST00000432098.2:n.675del (ATP6V1B1)
ENST00000432367.5:c.509del (ATP6V1B1)	ENSP00000405114.1:p.Pro170LeufsTer5
ENST00000432367.6:c.713del (VAX2)
ENST00000453130.1:c.143-11626del
ENST00000454446.5:c.560del (ATP6V1B1)	ENSP00000408361.1:p.Pro187LeufsTer5
ENST00000454446.6:c.509del (ATP6V1B1)	ENSP00000408361.2:p.Pro170LeufsTer5
ENST00000495118.1:n.64del (ATP6V1B1)
ENST00000606025.5:c.476-17568del	ENSP00000475641.1:n.476-17568del
ENST00000646783.1:c.545del (VAX2)
XM_011532907.1:c.629del (ATP6V1B1)	XP_011531209.1:p.Pro210LeufsTer5
XM_011532907.2:c.629del (ATP6V1B1)	XP_011531209.1:p.Pro210LeufsTer5