Canonical Allele Identifier: CA2739274547

Gene: ATP6V1B1 VAX2

Linked Data

• ClinVar Variation Id: 2813310
• ClinVar RCV Id: RCV003677937

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958117_70958118insC , CM000664.2:g.70958117_70958118insC	GRCh38
NC_000002.11:g.71185247_71185248insC , CM000664.1:g.71185247_71185248insC	GRCh37
NC_000002.10:g.71038755_71038756insC	NCBI36
NG_008016.1:g.27250_27251insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.246_247insC (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Val83ArgfsTer12
ENST00000432098.2:n.412_413insC (ATP6V1B1)
ENST00000432367.6:c.450_451insC (VAX2)
ENST00000454446.6:c.246_247insC (ATP6V1B1)	ENSP00000408361.2:p.Val83ArgfsTer12
ENST00000646783.1:c.282_283insC (VAX2)
ENST00000234396.8:c.246_247insC (ATP6V1B1)	ENSP00000234396.4:p.Val83ArgfsTer12
ENST00000412314.5:c.246_247insC (ATP6V1B1)	ENSP00000388353.1:p.Val83ArgfsTer12
ENST00000432098.1:c.-115_-114insC (ATP6V1B1)	ENSP00000387599.1:n.-115_-114insC
ENST00000432367.5:c.246_247insC (ATP6V1B1)	ENSP00000405114.1:p.Val83ArgfsTer12
ENST00000453130.1:c.143-9743_143-9742insG
ENST00000454446.5:c.297_298insC (ATP6V1B1)	ENSP00000408361.1:p.Val100ArgfsTer12
ENST00000463380.1:n.347_348insC (ATP6V1B1)
ENST00000606025.5:c.476-15685_476-15684insG	ENSP00000475641.1:n.476-15685_476-15684insG
NM_001692.3:c.246_247insC (ATP6V1B1)	NP_001683.2:p.Val83ArgfsTer12
XM_011532907.1:c.366_367insC (ATP6V1B1)	XP_011531209.1:p.Val123ArgfsTer12
NM_001692.4:c.246_247insC (ATP6V1B1) MANE Select	NP_001683.2:p.Val83ArgfsTer12
XM_011532907.2:c.366_367insC (ATP6V1B1)	XP_011531209.1:p.Val123ArgfsTer12