Canonical Allele Identifier: CA2659504784

Gene: ATP6V1B1 VAX2

Linked Data

• gnomAD v4: 2-70958025-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958026_70958027del , CM000664.2:g.70958026_70958027del	GRCh38
NC_000002.11:g.71185156_71185157del , CM000664.1:g.71185156_71185157del	GRCh37
NC_000002.10:g.71038664_71038665del	NCBI36
NG_008016.1:g.27159_27160del

Transcript Alleles

HGVS	Amino-acid change
ENST00000234396.10:c.175-20_175-19del (ATP6V1B1) MANE Select	ENSP00000234396.4:n.175-20_175-19del
ENST00000432098.2:n.341-20_341-19del (ATP6V1B1)
ENST00000432367.6:c.379-20_379-19del (VAX2)
ENST00000454446.6:c.175-20_175-19del (ATP6V1B1)	ENSP00000408361.2:n.175-20_175-19del
ENST00000646783.1:c.211-20_211-19del (VAX2)
ENST00000234396.8:c.175-20_175-19del (ATP6V1B1)	ENSP00000234396.4:n.175-20_175-19del
ENST00000412314.5:c.175-20_175-19del (ATP6V1B1)	ENSP00000388353.1:n.175-20_175-19del
ENST00000432098.1:c.-186-20_-186-19del (ATP6V1B1)	ENSP00000387599.1:n.-186-20_-186-19del
ENST00000432367.5:c.175-20_175-19del (ATP6V1B1)	ENSP00000405114.1:n.175-20_175-19del
ENST00000453130.1:c.143-9652_143-9651del
ENST00000454446.5:c.226-20_226-19del (ATP6V1B1)	ENSP00000408361.1:n.226-20_226-19del
ENST00000463380.1:n.256_257del (ATP6V1B1)
ENST00000606025.5:c.476-15594_476-15593del	ENSP00000475641.1:n.476-15594_476-15593de...
NM_001692.3:c.175-20_175-19del (ATP6V1B1)	NP_001683.2:n.175-20_175-19del
XM_011532907.1:c.295-20_295-19del (ATP6V1B1)	XP_011531209.1:n.295-20_295-19del
NM_001692.4:c.175-20_175-19del (ATP6V1B1) MANE Select	NP_001683.2:n.175-20_175-19del
XM_011532907.2:c.295-20_295-19del (ATP6V1B1)	XP_011531209.1:n.295-20_295-19del