Canonical Allele Identifier: CA1259810589

Gene: ATP6V1B1 VAX2

Linked Data

• dbSNP Id: rs1680482533

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70957992_70957994del , CM000664.2:g.70957992_70957994del	GRCh38
NC_000002.11:g.71185122_71185124del , CM000664.1:g.71185122_71185124del	GRCh37
NC_000002.10:g.71038630_71038632del	NCBI36
NG_008016.1:g.27125_27127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.175-54_175-52del (ATP6V1B1) MANE Select	ENSP00000234396.4:n.175-54_175-52del
ENST00000432098.2:n.341-54_341-52del (ATP6V1B1)
ENST00000432367.6:c.379-54_379-52del (VAX2)
ENST00000454446.6:c.175-54_175-52del (ATP6V1B1)	ENSP00000408361.2:n.175-54_175-52del
ENST00000646783.1:c.211-54_211-52del (VAX2)
ENST00000234396.8:c.175-54_175-52del (ATP6V1B1)	ENSP00000234396.4:n.175-54_175-52del
ENST00000412314.5:c.175-54_175-52del (ATP6V1B1)	ENSP00000388353.1:n.175-54_175-52del
ENST00000432098.1:c.-186-54_-186-52del (ATP6V1B1)	ENSP00000387599.1:n.-186-54_-186-52del
ENST00000432367.5:c.175-54_175-52del (ATP6V1B1)	ENSP00000405114.1:n.175-54_175-52del
ENST00000453130.1:c.143-9617_143-9615del
ENST00000454446.5:c.226-54_226-52del (ATP6V1B1)	ENSP00000408361.1:n.226-54_226-52del
ENST00000463380.1:n.222_224del (ATP6V1B1)
ENST00000606025.5:c.476-15559_476-15557del	ENSP00000475641.1:n.476-15559_476-15557del
NM_001692.3:c.175-54_175-52del (ATP6V1B1)	NP_001683.2:n.175-54_175-52del
XM_011532907.1:c.295-54_295-52del (ATP6V1B1)	XP_011531209.1:n.295-54_295-52del
NM_001692.4:c.175-54_175-52del (ATP6V1B1) MANE Select	NP_001683.2:n.175-54_175-52del
XM_011532907.2:c.295-54_295-52del (ATP6V1B1)	XP_011531209.1:n.295-54_295-52del