Canonical Allele Identifier: CA1259810645

Gene: ATP6V1B1 VAX2

Linked Data

• dbSNP Id: rs1680486535
• gnomAD v4: 2-70958094-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958097_70958098del , CM000664.2:g.70958097_70958098del	GRCh38
NC_000002.11:g.71185227_71185228del , CM000664.1:g.71185227_71185228del	GRCh37
NC_000002.10:g.71038735_71038736del	NCBI36
NG_008016.1:g.27230_27231del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.226_227del (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Arg76GlufsTer6
ENST00000432098.2:n.392_393del (ATP6V1B1)
ENST00000432367.6:c.430_431del (VAX2)
ENST00000454446.6:c.226_227del (ATP6V1B1)	ENSP00000408361.2:p.Arg76GlufsTer6
ENST00000646783.1:c.262_263del (VAX2)
ENST00000234396.8:c.226_227del (ATP6V1B1)	ENSP00000234396.4:p.Arg76GlufsTer6
ENST00000412314.5:c.226_227del (ATP6V1B1)	ENSP00000388353.1:p.Arg76GlufsTer6
ENST00000432098.1:c.-135_-134del (ATP6V1B1)	ENSP00000387599.1:n.-135_-134del
ENST00000432367.5:c.226_227del (ATP6V1B1)	ENSP00000405114.1:p.Arg76GlufsTer6
ENST00000453130.1:c.143-9721_143-9720del
ENST00000454446.5:c.277_278del (ATP6V1B1)	ENSP00000408361.1:p.Arg93GlufsTer6
ENST00000463380.1:n.327_328del (ATP6V1B1)
ENST00000606025.5:c.476-15663_476-15662del	ENSP00000475641.1:n.476-15663_476-15662del
NM_001692.3:c.226_227del (ATP6V1B1)	NP_001683.2:p.Arg76GlufsTer6
XM_011532907.1:c.346_347del (ATP6V1B1)	XP_011531209.1:p.Arg116GlufsTer6
NM_001692.4:c.226_227del (ATP6V1B1) MANE Select	NP_001683.2:p.Arg76GlufsTer6
XM_011532907.2:c.346_347del (ATP6V1B1)	XP_011531209.1:p.Arg116GlufsTer6