Canonical Allele Identifier: CA1259810644

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958094_70958096delinsCAG , CM000664.2:g.70958094_70958096delinsCAG	GRCh38
NC_000002.11:g.71185224_71185226delinsCAG , CM000664.1:g.71185224_71185226delinsCAG	GRCh37
NC_000002.10:g.71038732_71038734delinsCAG	NCBI36
NG_008016.1:g.27227_27229delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.223_225delinsCAG (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Gln75=
ENST00000432098.2:n.389_391delinsCAG (ATP6V1B1)
ENST00000432367.6:c.427_429delinsCAG (VAX2)
ENST00000454446.6:c.223_225delinsCAG (ATP6V1B1)	ENSP00000408361.2:p.Gln75=
ENST00000646783.1:c.259_261delinsCAG (VAX2)
ENST00000234396.8:c.223_225delinsCAG (ATP6V1B1)	ENSP00000234396.4:p.Gln75=
ENST00000412314.5:c.223_225delinsCAG (ATP6V1B1)	ENSP00000388353.1:p.Gln75=
ENST00000432098.1:c.-138_-136delinsCAG (ATP6V1B1)	ENSP00000387599.1:n.-138_-136delinsCAG
ENST00000432367.5:c.223_225delinsCAG (ATP6V1B1)	ENSP00000405114.1:p.Gln75=
ENST00000453130.1:c.143-9721_143-9719delinsCTG
ENST00000454446.5:c.274_276delinsCAG (ATP6V1B1)	ENSP00000408361.1:p.Gln92=
ENST00000463380.1:n.324_326delinsCAG (ATP6V1B1)
ENST00000606025.5:c.476-15663_476-15661delinsCTG	ENSP00000475641.1:n.476-15663_476-15661delinsCTG
NM_001692.3:c.223_225delinsCAG (ATP6V1B1)	NP_001683.2:p.Gln75=
XM_011532907.1:c.343_345delinsCAG (ATP6V1B1)	XP_011531209.1:p.Gln115=
NM_001692.4:c.223_225delinsCAG (ATP6V1B1) MANE Select	NP_001683.2:p.Gln75=
XM_011532907.2:c.343_345delinsCAG (ATP6V1B1)	XP_011531209.1:p.Gln115=