Canonical Allele Identifier: CA2695198206

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2680121
• ClinVar RCV Id: RCV003465159

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422263_41422264del , CM000681.2:g.41422263_41422264del	GRCh38
NC_000019.9:g.41928168_41928169del , CM000681.1:g.41928168_41928169del	GRCh37
NC_000019.8:g.46620008_46620009del	NCBI36
NG_013004.1:g.29475_29476del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.746_747del MANE Select	ENSP00000269980.2:p.Gly249ValfsTer8
ENST00000269980.6:c.746_747del	ENSP00000269980.2:p.Gly249ValfsTer8
ENST00000457836.6:c.680_681del	ENSP00000416000.2:p.Gly227ValfsTer8
ENST00000535632.5:n.375_376del
ENST00000540732.3:c.848_849del	ENSP00000443246.1:p.Gly283ValfsTer8
ENST00000542943.5:c.659_660del	ENSP00000440345.1:p.Gly220ValfsTer8
ENST00000545787.1:n.374_375del
ENST00000595085.5:c.746_747del	ENSP00000471150.2:p.Gly249ValfsTer8
NM_000709.3:c.746_747del	NP_000700.1:p.Gly249ValfsTer8
NM_001164783.1:c.746_747del	NP_001158255.1:p.Gly249ValfsTer8
NM_000709.4:c.746_747del MANE Select	NP_000700.1:p.Gly249ValfsTer8
NM_001164783.2:c.746_747del	NP_001158255.1:p.Gly249ValfsTer8