Canonical Allele Identifier: CA2841673854

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422707dup , CM000681.2:g.41422707dup	GRCh38
NC_000019.9:g.41928612dup , CM000681.1:g.41928612dup	GRCh37
NC_000019.8:g.46620452dup	NCBI36
NG_013004.1:g.29919dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.932dup MANE Select	ENSP00000269980.2:p.Glu312GlyfsTer29
ENST00000269980.6:c.932dup	ENSP00000269980.2:p.Glu312GlyfsTer29
ENST00000457836.6:c.866dup	ENSP00000416000.2:p.Glu290GlyfsTer29
ENST00000535632.5:n.561dup
ENST00000540732.3:c.1034dup	ENSP00000443246.1:p.Glu346GlyfsTer29
ENST00000542943.5:c.845dup	ENSP00000440345.1:p.Glu283GlyfsTer29
ENST00000545787.1:n.560dup
ENST00000595085.5:c.922+10dup	ENSP00000471150.2:n.922+10dup
NM_000709.3:c.932dup	NP_000700.1:p.Glu312GlyfsTer29
NM_001164783.1:c.929dup	NP_001158255.1:p.Glu311GlyfsTer29
NM_000709.4:c.932dup MANE Select	NP_000700.1:p.Glu312GlyfsTer29
NM_001164783.2:c.929dup	NP_001158255.1:p.Glu311GlyfsTer29