Canonical Allele Identifier: CA2695228772

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424540dup , CM000681.2:g.41424540dup	GRCh38
NC_000019.9:g.41930445dup , CM000681.1:g.41930445dup	GRCh37
NC_000019.8:g.46622285dup	NCBI36
NG_013004.1:g.31752dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1270dup MANE Select	ENSP00000269980.2:p.Gln424ProfsTer22
ENST00000269980.6:c.1270dup	ENSP00000269980.2:p.Gln424ProfsTer22
ENST00000457836.6:c.1279dup	ENSP00000416000.2:p.Gln427ProfsTer22
ENST00000540732.3:c.1372dup	ENSP00000443246.1:p.Gln458ProfsTer22
ENST00000544905.1:c.100dup
ENST00000595085.5:c.922+1843dup	ENSP00000471150.2:n.922+1843dup
NM_000709.3:c.1270dup	NP_000700.1:p.Gln424ProfsTer22
NM_001164783.1:c.1267dup	NP_001158255.1:p.Gln423ProfsTer22
NM_000709.4:c.1270dup MANE Select	NP_000700.1:p.Gln424ProfsTer22
NM_001164783.2:c.1267dup	NP_001158255.1:p.Gln423ProfsTer22