Canonical Allele Identifier: CA2841673892

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424447dup , CM000681.2:g.41424447dup	GRCh38
NC_000019.9:g.41930352dup , CM000681.1:g.41930352dup	GRCh37
NC_000019.8:g.46622192dup	NCBI36
NG_013004.1:g.31659dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1177dup MANE Select	ENSP00000269980.2:p.Ala393GlyfsTer3
ENST00000269980.6:c.1177dup	ENSP00000269980.2:p.Ala393GlyfsTer3
ENST00000457836.6:c.1186dup	ENSP00000416000.2:p.Ala396GlyfsTer3
ENST00000540732.3:c.1279dup	ENSP00000443246.1:p.Ala427GlyfsTer3
ENST00000544905.1:c.62-55dup
ENST00000595085.5:c.922+1750dup	ENSP00000471150.2:n.922+1750dup
NM_000709.3:c.1177dup	NP_000700.1:p.Ala393GlyfsTer3
NM_001164783.1:c.1174dup	NP_001158255.1:p.Ala392GlyfsTer3
NM_000709.4:c.1177dup MANE Select	NP_000700.1:p.Ala393GlyfsTer3
NM_001164783.2:c.1174dup	NP_001158255.1:p.Ala392GlyfsTer3