Canonical Allele Identifier: CA2695228768

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422722_41422731del , CM000681.2:g.41422722_41422731del	GRCh38
NC_000019.9:g.41928627_41928636del , CM000681.1:g.41928627_41928636del	GRCh37
NC_000019.8:g.46620467_46620476del	NCBI36
NG_013004.1:g.29934_29943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.947_956del MANE Select	ENSP00000269980.2:p.Arg316GlnfsTer11
ENST00000269980.6:c.947_956del	ENSP00000269980.2:p.Arg316GlnfsTer11
ENST00000457836.6:c.881_890del	ENSP00000416000.2:p.Arg294GlnfsTer11
ENST00000535632.5:n.576_585del
ENST00000540732.3:c.1049_1058del	ENSP00000443246.1:p.Arg350GlnfsTer11
ENST00000542943.5:c.860_869del	ENSP00000440345.1:p.Arg287GlnfsTer11
ENST00000545787.1:n.575_584del
ENST00000595085.5:c.922+25_922+34del	ENSP00000471150.2:n.922+25_922+34del
NM_000709.3:c.947_956del	NP_000700.1:p.Arg316GlnfsTer11
NM_001164783.1:c.944_953del	NP_001158255.1:p.Arg315GlnfsTer11
NM_000709.4:c.947_956del MANE Select	NP_000700.1:p.Arg316GlnfsTer11
NM_001164783.2:c.944_953del	NP_001158255.1:p.Arg315GlnfsTer11