Canonical Allele Identifier: CA2336459316

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422861_41422862delinsCT , CM000681.2:g.41422861_41422862delinsCT	GRCh38
NC_000019.9:g.41928766_41928767delinsCT , CM000681.1:g.41928766_41928767delinsCT	GRCh37
NC_000019.8:g.46620606_46620607delinsCT	NCBI36
NG_013004.1:g.30073_30074delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.995+91_995+92delinsCT MANE Select	ENSP00000269980.2:n.995+91_995+92delinsCT
ENST00000269980.6:c.995+91_995+92delinsCT	ENSP00000269980.2:n.995+91_995+92delinsCT
ENST00000457836.6:c.930-62_930-61delinsCT	ENSP00000416000.2:n.930-62_930-61delinsCT
ENST00000540732.3:c.1097+91_1097+92delinsCT	ENSP00000443246.1:n.1097+91_1097+92delinsCT
ENST00000542943.5:c.908+91_908+92delinsCT	ENSP00000440345.1:n.908+91_908+92delinsCT
ENST00000595085.5:c.922+164_922+165delinsCT	ENSP00000471150.2:n.922+164_922+165delinsCT
NM_000709.3:c.995+91_995+92delinsCT	NP_000700.1:n.995+91_995+92delinsCT
NM_001164783.1:c.992+91_992+92delinsCT	NP_001158255.1:n.992+91_992+92delinsCT
NM_000709.4:c.995+91_995+92delinsCT MANE Select	NP_000700.1:n.995+91_995+92delinsCT
NM_001164783.2:c.992+91_992+92delinsCT	NP_001158255.1:n.992+91_992+92delinsCT