Canonical Allele Identifier: CA1259810569

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70957947_70957949delinsGGA , CM000664.2:g.70957947_70957949delinsGGA	GRCh38
NC_000002.11:g.71185077_71185079delinsGGA , CM000664.1:g.71185077_71185079delinsGGA	GRCh37
NC_000002.10:g.71038585_71038587delinsGGA	NCBI36
NG_008016.1:g.27080_27082delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.175-99_175-97delinsGGA (ATP6V1B1) MANE Select	ENSP00000234396.4:n.175-99_175-97delinsGGA
ENST00000432098.2:n.341-99_341-97delinsGGA (ATP6V1B1)
ENST00000432367.6:c.379-99_379-97delinsGGA (VAX2)
ENST00000454446.6:c.175-99_175-97delinsGGA (ATP6V1B1)	ENSP00000408361.2:n.175-99_175-97delinsGGA
ENST00000646783.1:c.211-99_211-97delinsGGA (VAX2)
ENST00000234396.8:c.175-99_175-97delinsGGA (ATP6V1B1)	ENSP00000234396.4:n.175-99_175-97delinsGGA
ENST00000412314.5:c.175-99_175-97delinsGGA (ATP6V1B1)	ENSP00000388353.1:n.175-99_175-97delinsGGA
ENST00000432098.1:c.-186-99_-186-97delinsGGA (ATP6V1B1)	ENSP00000387599.1:n.-186-99_-186-97delinsGGA
ENST00000432367.5:c.175-99_175-97delinsGGA (ATP6V1B1)	ENSP00000405114.1:n.175-99_175-97delinsGGA
ENST00000453130.1:c.143-9574_143-9572delinsTCC
ENST00000454446.5:c.226-99_226-97delinsGGA (ATP6V1B1)	ENSP00000408361.1:n.226-99_226-97delinsGGA
ENST00000463380.1:n.177_179delinsGGA (ATP6V1B1)
ENST00000606025.5:c.476-15516_476-15514delinsTCC	ENSP00000475641.1:n.476-15516_476-15514delinsTCC
NM_001692.3:c.175-99_175-97delinsGGA (ATP6V1B1)	NP_001683.2:n.175-99_175-97delinsGGA
XM_011532907.1:c.295-99_295-97delinsGGA (ATP6V1B1)	XP_011531209.1:n.295-99_295-97delinsGGA
NM_001692.4:c.175-99_175-97delinsGGA (ATP6V1B1) MANE Select	NP_001683.2:n.175-99_175-97delinsGGA
XM_011532907.2:c.295-99_295-97delinsGGA (ATP6V1B1)	XP_011531209.1:n.295-99_295-97delinsGGA