Canonical Allele Identifier: CA1701277

Gene: ATP6V1B1 VAX2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70964449dup , CM000664.2:g.70964449dup	GRCh38
NC_000002.11:g.71191579dup , CM000664.1:g.71191579dup	GRCh37
NC_000002.10:g.71045087dup	NCBI36
NG_008016.1:g.33582dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001692.4:c.1155dup (ATP6V1B1) MANE Select	NP_001683.2:p.Ile386HisfsTer?
ENST00000234396.10:c.1155dup (ATP6V1B1) MANE Select	ENSP00000234396.4:p.Ile386HisfsTer?
NM_001692.3:c.1155dup (ATP6V1B1)	NP_001683.2:p.Ile386HisfsTer?
ENST00000234396.8:c.1155dup (ATP6V1B1)	ENSP00000234396.4:p.Ile386HisfsTer?
ENST00000412314.5:c.1104dup (ATP6V1B1)	ENSP00000388353.1:p.Ile369HisfsTer?
ENST00000432367.5:c.*433dup (ATP6V1B1)	ENSP00000405114.1:n.*433dup
ENST00000432367.6:c.1208dup (VAX2)
ENST00000433895.1:c.-31dup (ATP6V1B1)	ENSP00000407840.1:n.-31dup
ENST00000433895.2:c.87dup (ATP6V1B1)	ENSP00000407840.2:p.Ile30HisfsTer?
ENST00000453130.1:c.143-16068dup
ENST00000606025.5:c.476-22010dup	ENSP00000475641.1:n.476-22010dup
ENST00000646783.1:c.1191dup (VAX2)
XM_011532907.1:c.1275dup (ATP6V1B1)	XP_011531209.1:p.Ile426HisfsTer?
XM_011532907.2:c.1275dup (ATP6V1B1)	XP_011531209.1:p.Ile426HisfsTer?