Canonical Allele Identifier: CA2576997072

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958085_70958091del , CM000664.2:g.70958085_70958091del	GRCh38
NC_000002.11:g.71185215_71185221del , CM000664.1:g.71185215_71185221del	GRCh37
NC_000002.10:g.71038723_71038729del	NCBI36
NG_008016.1:g.27218_27224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.214_220del (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Asp72LeufsTer?
ENST00000432098.2:n.380_386del (ATP6V1B1)
ENST00000432367.6:c.418_424del (VAX2)
ENST00000454446.6:c.214_220del (ATP6V1B1)	ENSP00000408361.2:p.Asp72LeufsTer?
ENST00000646783.1:c.250_256del (VAX2)
ENST00000234396.8:c.214_220del (ATP6V1B1)	ENSP00000234396.4:p.Asp72LeufsTer?
ENST00000412314.5:c.214_220del (ATP6V1B1)	ENSP00000388353.1:p.Asp72LeufsTer?
ENST00000432098.1:c.-147_-141del (ATP6V1B1)	ENSP00000387599.1:n.-147_-141del
ENST00000432367.5:c.214_220del (ATP6V1B1)	ENSP00000405114.1:p.Asp72LeufsTer?
ENST00000453130.1:c.143-9715_143-9709del
ENST00000454446.5:c.265_271del (ATP6V1B1)	ENSP00000408361.1:p.Asp89LeufsTer?
ENST00000463380.1:n.315_321del (ATP6V1B1)
ENST00000606025.5:c.476-15657_476-15651del	ENSP00000475641.1:n.476-15657_476-15651del
NM_001692.3:c.214_220del (ATP6V1B1)	NP_001683.2:p.Asp72LeufsTer?
XM_011532907.1:c.334_340del (ATP6V1B1)	XP_011531209.1:p.Asp112LeufsTer?
NM_001692.4:c.214_220del (ATP6V1B1) MANE Select	NP_001683.2:p.Asp72LeufsTer?
XM_011532907.2:c.334_340del (ATP6V1B1)	XP_011531209.1:p.Asp112LeufsTer?