Canonical Allele Identifier: CA1139657067

Gene: ATP6V1B1 VAX2

Linked Data

• ClinVar Variation Id: 975088
• ClinVar RCV Id: RCV001251495 ; RCV001879825
• dbSNP Id: rs1680484812

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70958054del , CM000664.2:g.70958054del	GRCh38
NC_000002.11:g.71185184del , CM000664.1:g.71185184del	GRCh37
NC_000002.10:g.71038692del	NCBI36
NG_008016.1:g.27187del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000234396.10:c.183del (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Gln61HisfsTer?
ENST00000432098.2:n.349del (ATP6V1B1)
ENST00000432367.6:c.387del (VAX2)
ENST00000454446.6:c.183del (ATP6V1B1)	ENSP00000408361.2:p.Gln61HisfsTer?
ENST00000646783.1:c.219del (VAX2)
ENST00000234396.8:c.183del (ATP6V1B1)	ENSP00000234396.4:p.Gln61HisfsTer?
ENST00000412314.5:c.183del (ATP6V1B1)	ENSP00000388353.1:p.Gln61HisfsTer?
ENST00000432098.1:c.-178del (ATP6V1B1)	ENSP00000387599.1:n.-178del
ENST00000432367.5:c.183del (ATP6V1B1)	ENSP00000405114.1:p.Gln61HisfsTer?
ENST00000453130.1:c.143-9679del
ENST00000454446.5:c.234del (ATP6V1B1)	ENSP00000408361.1:p.Gln78HisfsTer?
ENST00000463380.1:n.284del (ATP6V1B1)
ENST00000606025.5:c.476-15621del	ENSP00000475641.1:n.476-15621del
NM_001692.3:c.183del (ATP6V1B1)	NP_001683.2:p.Gln61HisfsTer?
XM_011532907.1:c.303del (ATP6V1B1)	XP_011531209.1:p.Gln101HisfsTer?
NM_001692.4:c.183del (ATP6V1B1) MANE Select	NP_001683.2:p.Gln61HisfsTer?
XM_011532907.2:c.303del (ATP6V1B1)	XP_011531209.1:p.Gln101HisfsTer?