Canonical Allele Identifier: CA1259810653

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958105_70958106delinsGC , CM000664.2:g.70958105_70958106delinsGC	GRCh38
NC_000002.11:g.71185235_71185236delinsGC , CM000664.1:g.71185235_71185236delinsGC	GRCh37
NC_000002.10:g.71038743_71038744delinsGC	NCBI36
NG_008016.1:g.27238_27239delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.234_235delinsGC (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Gly78=
ENST00000432098.2:n.400_401delinsGC (ATP6V1B1)
ENST00000432367.6:c.438_439delinsGC (VAX2)
ENST00000454446.6:c.234_235delinsGC (ATP6V1B1)	ENSP00000408361.2:p.Gly78=
ENST00000646783.1:c.270_271delinsGC (VAX2)
ENST00000234396.8:c.234_235delinsGC (ATP6V1B1)	ENSP00000234396.4:p.Gly78=
ENST00000412314.5:c.234_235delinsGC (ATP6V1B1)	ENSP00000388353.1:p.Gly78=
ENST00000432098.1:c.-127_-126delinsGC (ATP6V1B1)	ENSP00000387599.1:n.-127_-126delinsGC
ENST00000432367.5:c.234_235delinsGC (ATP6V1B1)	ENSP00000405114.1:p.Gly78=
ENST00000453130.1:c.143-9731_143-9730delinsGC
ENST00000454446.5:c.285_286delinsGC (ATP6V1B1)	ENSP00000408361.1:p.Gly95=
ENST00000463380.1:n.335_336delinsGC (ATP6V1B1)
ENST00000606025.5:c.476-15673_476-15672delinsGC	ENSP00000475641.1:n.476-15673_476-15672delinsGC
NM_001692.3:c.234_235delinsGC (ATP6V1B1)	NP_001683.2:p.Gly78=
XM_011532907.1:c.354_355delinsGC (ATP6V1B1)	XP_011531209.1:p.Gly118=
NM_001692.4:c.234_235delinsGC (ATP6V1B1) MANE Select	NP_001683.2:p.Gly78=
XM_011532907.2:c.354_355delinsGC (ATP6V1B1)	XP_011531209.1:p.Gly118=