Canonical Allele Identifier: CA913016475

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928135_41928136del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422230_41422231del , CM000681.2:g.41422230_41422231del	GRCh38
NC_000019.9:g.41928135_41928136del , CM000681.1:g.41928135_41928136del	GRCh37
NC_000019.8:g.46619975_46619976del	NCBI36
NG_013004.1:g.29442_29443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.713_714del MANE Select	ENSP00000269980.2:p.Glu238GlyfsTer5
ENST00000269980.6:c.713_714del	ENSP00000269980.2:p.Glu238GlyfsTer5
ENST00000457836.6:c.647_648del	ENSP00000416000.2:p.Glu216GlyfsTer5
ENST00000535632.5:n.342_343del
ENST00000540732.3:c.815_816del	ENSP00000443246.1:p.Glu272GlyfsTer5
ENST00000541315.1:c.613_614del
ENST00000542943.5:c.626_627del	ENSP00000440345.1:p.Glu209GlyfsTer5
ENST00000545787.1:n.341_342del
ENST00000595085.5:c.713_714del	ENSP00000471150.2:p.Glu238GlyfsTer5
NM_000709.3:c.713_714del	NP_000700.1:p.Glu238GlyfsTer5
NM_001164783.1:c.713_714del	NP_001158255.1:p.Glu238GlyfsTer5
NM_000709.4:c.713_714del MANE Select	NP_000700.1:p.Glu238GlyfsTer5
NM_001164783.2:c.713_714del	NP_001158255.1:p.Glu238GlyfsTer5