Canonical Allele Identifier: CA2659504783

Gene: ATP6V1B1 VAX2

Linked Data

• gnomAD v4: 2-70958024-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958024_70958025insA , CM000664.2:g.70958024_70958025insA	GRCh38
NC_000002.11:g.71185154_71185155insA , CM000664.1:g.71185154_71185155insA	GRCh37
NC_000002.10:g.71038662_71038663insA	NCBI36
NG_008016.1:g.27157_27158insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000234396.10:c.175-22_175-21insA (ATP6V1B1) MANE Select	ENSP00000234396.4:n.175-22_175-21insA
ENST00000432098.2:n.341-22_341-21insA (ATP6V1B1)
ENST00000432367.6:c.379-22_379-21insA (VAX2)
ENST00000454446.6:c.175-22_175-21insA (ATP6V1B1)	ENSP00000408361.2:n.175-22_175-21insA
ENST00000646783.1:c.211-22_211-21insA (VAX2)
ENST00000234396.8:c.175-22_175-21insA (ATP6V1B1)	ENSP00000234396.4:n.175-22_175-21insA
ENST00000412314.5:c.175-22_175-21insA (ATP6V1B1)	ENSP00000388353.1:n.175-22_175-21insA
ENST00000432098.1:c.-186-22_-186-21insA (ATP6V1B1)	ENSP00000387599.1:n.-186-22_-186-21insA
ENST00000432367.5:c.175-22_175-21insA (ATP6V1B1)	ENSP00000405114.1:n.175-22_175-21insA
ENST00000453130.1:c.143-9650_143-9649insT
ENST00000454446.5:c.226-22_226-21insA (ATP6V1B1)	ENSP00000408361.1:n.226-22_226-21insA
ENST00000463380.1:n.254_255insA (ATP6V1B1)
ENST00000606025.5:c.476-15592_476-15591insT	ENSP00000475641.1:n.476-15592_476-15591in...
NM_001692.3:c.175-22_175-21insA (ATP6V1B1)	NP_001683.2:n.175-22_175-21insA
XM_011532907.1:c.295-22_295-21insA (ATP6V1B1)	XP_011531209.1:n.295-22_295-21insA
NM_001692.4:c.175-22_175-21insA (ATP6V1B1) MANE Select	NP_001683.2:n.175-22_175-21insA
XM_011532907.2:c.295-22_295-21insA (ATP6V1B1)	XP_011531209.1:n.295-22_295-21insA