Canonical Allele Identifier: CA2580067743

Gene: ATP6V1B1 VAX2

Linked Data

• ClinVar Variation Id: 2099318
• ClinVar RCV Id: RCV003022937

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958116del , CM000664.2:g.70958116del	GRCh38
NC_000002.11:g.71185246del , CM000664.1:g.71185246del	GRCh37
NC_000002.10:g.71038754del	NCBI36
NG_008016.1:g.27249del

Transcript Alleles

HGVS	Amino-acid change
ENST00000234396.10:c.245del (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Glu82GlyfsTer?
ENST00000432098.2:n.411del (ATP6V1B1)
ENST00000432367.6:c.449del (VAX2)
ENST00000454446.6:c.245del (ATP6V1B1)	ENSP00000408361.2:p.Glu82GlyfsTer?
ENST00000646783.1:c.281del (VAX2)
ENST00000234396.8:c.245del (ATP6V1B1)	ENSP00000234396.4:p.Glu82GlyfsTer?
ENST00000412314.5:c.245del (ATP6V1B1)	ENSP00000388353.1:p.Glu82GlyfsTer?
ENST00000432098.1:c.-116del (ATP6V1B1)	ENSP00000387599.1:n.-116del
ENST00000432367.5:c.245del (ATP6V1B1)	ENSP00000405114.1:p.Glu82GlyfsTer?
ENST00000453130.1:c.143-9741del
ENST00000454446.5:c.296del (ATP6V1B1)	ENSP00000408361.1:p.Glu99GlyfsTer?
ENST00000463380.1:n.346del (ATP6V1B1)
ENST00000606025.5:c.476-15683del	ENSP00000475641.1:n.476-15683del
NM_001692.3:c.245del (ATP6V1B1)	NP_001683.2:p.Glu82GlyfsTer?
XM_011532907.1:c.365del (ATP6V1B1)	XP_011531209.1:p.Glu122GlyfsTer?
NM_001692.4:c.245del (ATP6V1B1) MANE Select	NP_001683.2:p.Glu82GlyfsTer?
XM_011532907.2:c.365del (ATP6V1B1)	XP_011531209.1:p.Glu122GlyfsTer?