Canonical Allele Identifier: CA2580097290

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2098463
• ClinVar RCV Id: RCV003019195

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422176del , CM000681.2:g.41422176del	GRCh38
NC_000019.9:g.41928081del , CM000681.1:g.41928081del	GRCh37
NC_000019.8:g.46619921del	NCBI36
NG_013004.1:g.29388del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.659del MANE Select	ENSP00000269980.2:p.Ala220GlyfsTer?
ENST00000269980.6:c.659del	ENSP00000269980.2:p.Ala220GlyfsTer?
ENST00000457836.6:c.593del	ENSP00000416000.2:p.Ala198GlyfsTer?
ENST00000535632.5:n.288del
ENST00000538423.5:n.785del
ENST00000540732.3:c.761del	ENSP00000443246.1:p.Ala254GlyfsTer?
ENST00000541315.1:c.559del
ENST00000542943.5:c.572del	ENSP00000440345.1:p.Ala191GlyfsTer?
ENST00000545787.1:n.287del
ENST00000595085.5:c.659del	ENSP00000471150.2:p.Ala220GlyfsTer?
NM_000709.3:c.659del	NP_000700.1:p.Ala220GlyfsTer?
NM_001164783.1:c.659del	NP_001158255.1:p.Ala220GlyfsTer?
NM_000709.4:c.659del MANE Select	NP_000700.1:p.Ala220GlyfsTer?
NM_001164783.2:c.659del	NP_001158255.1:p.Ala220GlyfsTer?