Canonical Allele Identifier: CA1032032223

Gene: ATP6V1B1 VAX2

Linked Data

• dbSNP Id: rs1680491250
• gnomAD v3: 2-70958201-TCC-T
• gnomAD v4: 2-70958201-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958203_70958204del , CM000664.2:g.70958203_70958204del	GRCh38
NC_000002.11:g.71185333_71185334del , CM000664.1:g.71185333_71185334del	GRCh37
NC_000002.10:g.71038841_71038842del	NCBI36
NG_008016.1:g.27336_27337del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.273+59_273+60del (ATP6V1B1) MANE Select	ENSP00000234396.4:n.273+59_273+60del
ENST00000432098.2:n.439+59_439+60del (ATP6V1B1)
ENST00000432367.6:c.477+59_477+60del (VAX2)
ENST00000454446.6:c.273+59_273+60del (ATP6V1B1)	ENSP00000408361.2:n.273+59_273+60del
ENST00000646783.1:c.309+59_309+60del (VAX2)
ENST00000234396.8:c.273+59_273+60del (ATP6V1B1)	ENSP00000234396.4:n.273+59_273+60del
ENST00000412314.5:c.273+59_273+60del (ATP6V1B1)	ENSP00000388353.1:n.273+59_273+60del
ENST00000432098.1:c.-88+59_-88+60del (ATP6V1B1)	ENSP00000387599.1:n.-88+59_-88+60del
ENST00000432367.5:c.273+59_273+60del (ATP6V1B1)	ENSP00000405114.1:n.273+59_273+60del
ENST00000453130.1:c.143-9828_143-9827del
ENST00000454446.5:c.324+59_324+60del (ATP6V1B1)	ENSP00000408361.1:n.324+59_324+60del
ENST00000463380.1:n.374+59_374+60del (ATP6V1B1)
ENST00000606025.5:c.476-15770_476-15769del	ENSP00000475641.1:n.476-15770_476-15769del
NM_001692.3:c.273+59_273+60del (ATP6V1B1)	NP_001683.2:n.273+59_273+60del
XM_011532907.1:c.393+59_393+60del (ATP6V1B1)	XP_011531209.1:n.393+59_393+60del
NM_001692.4:c.273+59_273+60del (ATP6V1B1) MANE Select	NP_001683.2:n.273+59_273+60del
XM_011532907.2:c.393+59_393+60del (ATP6V1B1)	XP_011531209.1:n.393+59_393+60del