Canonical Allele Identifier: CA1259810588

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70957989_70957992delinsGAGA , CM000664.2:g.70957989_70957992delinsGAGA	GRCh38
NC_000002.11:g.71185119_71185122delinsGAGA , CM000664.1:g.71185119_71185122delinsGAGA	GRCh37
NC_000002.10:g.71038627_71038630delinsGAGA	NCBI36
NG_008016.1:g.27122_27125delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.175-57_175-54delinsGAGA (ATP6V1B1) MANE Select	ENSP00000234396.4:n.175-57_175-54delinsGAGA
ENST00000432098.2:n.341-57_341-54delinsGAGA (ATP6V1B1)
ENST00000432367.6:c.379-57_379-54delinsGAGA (VAX2)
ENST00000454446.6:c.175-57_175-54delinsGAGA (ATP6V1B1)	ENSP00000408361.2:n.175-57_175-54delinsGAGA
ENST00000646783.1:c.211-57_211-54delinsGAGA (VAX2)
ENST00000234396.8:c.175-57_175-54delinsGAGA (ATP6V1B1)	ENSP00000234396.4:n.175-57_175-54delinsGAGA
ENST00000412314.5:c.175-57_175-54delinsGAGA (ATP6V1B1)	ENSP00000388353.1:n.175-57_175-54delinsGAGA
ENST00000432098.1:c.-186-57_-186-54delinsGAGA (ATP6V1B1)	ENSP00000387599.1:n.-186-57_-186-54delinsGAGA
ENST00000432367.5:c.175-57_175-54delinsGAGA (ATP6V1B1)	ENSP00000405114.1:n.175-57_175-54delinsGAGA
ENST00000453130.1:c.143-9617_143-9614delinsTCTC
ENST00000454446.5:c.226-57_226-54delinsGAGA (ATP6V1B1)	ENSP00000408361.1:n.226-57_226-54delinsGAGA
ENST00000463380.1:n.219_222delinsGAGA (ATP6V1B1)
ENST00000606025.5:c.476-15559_476-15556delinsTCTC	ENSP00000475641.1:n.476-15559_476-15556delinsTCTC
NM_001692.3:c.175-57_175-54delinsGAGA (ATP6V1B1)	NP_001683.2:n.175-57_175-54delinsGAGA
XM_011532907.1:c.295-57_295-54delinsGAGA (ATP6V1B1)	XP_011531209.1:n.295-57_295-54delinsGAGA
NM_001692.4:c.175-57_175-54delinsGAGA (ATP6V1B1) MANE Select	NP_001683.2:n.175-57_175-54delinsGAGA
XM_011532907.2:c.295-57_295-54delinsGAGA (ATP6V1B1)	XP_011531209.1:n.295-57_295-54delinsGAGA