Canonical Allele Identifier: CA2695228766

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422220del , CM000681.2:g.41422220del	GRCh38
NC_000019.9:g.41928125del , CM000681.1:g.41928125del	GRCh37
NC_000019.8:g.46619965del	NCBI36
NG_013004.1:g.29432del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.703del MANE Select	ENSP00000269980.2:p.Tyr235ThrfsTer?
ENST00000269980.6:c.703del	ENSP00000269980.2:p.Tyr235ThrfsTer?
ENST00000457836.6:c.637del	ENSP00000416000.2:p.Tyr213ThrfsTer?
ENST00000535632.5:n.332del
ENST00000540732.3:c.805del	ENSP00000443246.1:p.Tyr269ThrfsTer?
ENST00000541315.1:c.603del
ENST00000542943.5:c.616del	ENSP00000440345.1:p.Tyr206ThrfsTer?
ENST00000545787.1:n.331del
ENST00000595085.5:c.703del	ENSP00000471150.2:p.Tyr235ThrfsTer?
NM_000709.3:c.703del	NP_000700.1:p.Tyr235ThrfsTer?
NM_001164783.1:c.703del	NP_001158255.1:p.Tyr235ThrfsTer?
NM_000709.4:c.703del MANE Select	NP_000700.1:p.Tyr235ThrfsTer?
NM_001164783.2:c.703del	NP_001158255.1:p.Tyr235ThrfsTer?