Canonical Allele Identifier: CA1259810654

Gene: ATP6V1B1 VAX2

Linked Data

• dbSNP Id: rs1680487402

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958106del , CM000664.2:g.70958106del	GRCh38
NC_000002.11:g.71185236del , CM000664.1:g.71185236del	GRCh37
NC_000002.10:g.71038744del	NCBI36
NG_008016.1:g.27239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.235del (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Gln79ArgfsTer?
ENST00000432098.2:n.401del (ATP6V1B1)
ENST00000432367.6:c.439del (VAX2)
ENST00000454446.6:c.235del (ATP6V1B1)	ENSP00000408361.2:p.Gln79ArgfsTer?
ENST00000646783.1:c.271del (VAX2)
ENST00000234396.8:c.235del (ATP6V1B1)	ENSP00000234396.4:p.Gln79ArgfsTer?
ENST00000412314.5:c.235del (ATP6V1B1)	ENSP00000388353.1:p.Gln79ArgfsTer?
ENST00000432098.1:c.-126del (ATP6V1B1)	ENSP00000387599.1:n.-126del
ENST00000432367.5:c.235del (ATP6V1B1)	ENSP00000405114.1:p.Gln79ArgfsTer?
ENST00000453130.1:c.143-9731del
ENST00000454446.5:c.286del (ATP6V1B1)	ENSP00000408361.1:p.Gln96ArgfsTer?
ENST00000463380.1:n.336del (ATP6V1B1)
ENST00000606025.5:c.476-15673del	ENSP00000475641.1:n.476-15673del
NM_001692.3:c.235del (ATP6V1B1)	NP_001683.2:p.Gln79ArgfsTer?
XM_011532907.1:c.355del (ATP6V1B1)	XP_011531209.1:p.Gln119ArgfsTer?
NM_001692.4:c.235del (ATP6V1B1) MANE Select	NP_001683.2:p.Gln79ArgfsTer?
XM_011532907.2:c.355del (ATP6V1B1)	XP_011531209.1:p.Gln119ArgfsTer?