Canonical Allele Identifier: CA2841673853

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422645del , CM000681.2:g.41422645del	GRCh38
NC_000019.9:g.41928550del , CM000681.1:g.41928550del	GRCh37
NC_000019.8:g.46620390del	NCBI36
NG_013004.1:g.29857del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.870del MANE Select	ENSP00000269980.2:p.Tyr291MetfsTer?
ENST00000269980.6:c.870del	ENSP00000269980.2:p.Tyr291MetfsTer?
ENST00000457836.6:c.804del	ENSP00000416000.2:p.Tyr269MetfsTer?
ENST00000535632.5:n.499del
ENST00000540732.3:c.972del	ENSP00000443246.1:p.Tyr325MetfsTer?
ENST00000542943.5:c.783del	ENSP00000440345.1:p.Tyr262MetfsTer?
ENST00000545787.1:n.498del
ENST00000595085.5:c.870del	ENSP00000471150.2:p.Tyr291MetfsTer?
NM_000709.3:c.870del	NP_000700.1:p.Tyr291MetfsTer?
NM_001164783.1:c.867del	NP_001158255.1:p.Tyr290MetfsTer?
NM_000709.4:c.870del MANE Select	NP_000700.1:p.Tyr291MetfsTer?
NM_001164783.2:c.867del	NP_001158255.1:p.Tyr290MetfsTer?