Canonical Allele Identifier: CA2580097292

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2020233
• ClinVar RCV Id: RCV002852413
• gnomAD v4: 19-41422214-ATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422216_41422217del , CM000681.2:g.41422216_41422217del	GRCh38
NC_000019.9:g.41928121_41928122del , CM000681.1:g.41928121_41928122del	GRCh37
NC_000019.8:g.46619961_46619962del	NCBI36
NG_013004.1:g.29428_29429del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.699_700del MANE Select	ENSP00000269980.2:p.Ile233MetfsTer10
ENST00000269980.6:c.699_700del	ENSP00000269980.2:p.Ile233MetfsTer10
ENST00000457836.6:c.633_634del	ENSP00000416000.2:p.Ile211MetfsTer10
ENST00000535632.5:n.328_329del
ENST00000540732.3:c.801_802del	ENSP00000443246.1:p.Ile267MetfsTer10
ENST00000541315.1:c.599_600del
ENST00000542943.5:c.612_613del	ENSP00000440345.1:p.Ile204MetfsTer10
ENST00000545787.1:n.327_328del
ENST00000595085.5:c.699_700del	ENSP00000471150.2:p.Ile233MetfsTer10
NM_000709.3:c.699_700del	NP_000700.1:p.Ile233MetfsTer10
NM_001164783.1:c.699_700del	NP_001158255.1:p.Ile233MetfsTer10
NM_000709.4:c.699_700del MANE Select	NP_000700.1:p.Ile233MetfsTer10
NM_001164783.2:c.699_700del	NP_001158255.1:p.Ile233MetfsTer10