Canonical Allele Identifier: CA2336459257

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422746_41422747delinsTC , CM000681.2:g.41422746_41422747delinsTC	GRCh38
NC_000019.9:g.41928651_41928652delinsTC , CM000681.1:g.41928651_41928652delinsTC	GRCh37
NC_000019.8:g.46620491_46620492delinsTC	NCBI36
NG_013004.1:g.29958_29959delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.971_972delinsTC MANE Select	ENSP00000269980.2:p.Phe324=
ENST00000269980.6:c.971_972delinsTC	ENSP00000269980.2:p.Phe324=
ENST00000457836.6:c.905_906delinsTC	ENSP00000416000.2:p.Phe302=
ENST00000535632.5:n.600_601delinsTC
ENST00000540732.3:c.1073_1074delinsTC	ENSP00000443246.1:p.Phe358=
ENST00000542943.5:c.884_885delinsTC	ENSP00000440345.1:p.Phe295=
ENST00000595085.5:c.922+49_922+50delinsTC	ENSP00000471150.2:n.922+49_922+50delinsTC...
NM_000709.3:c.971_972delinsTC	NP_000700.1:p.Phe324=
NM_001164783.1:c.968_969delinsTC	NP_001158255.1:p.Phe323=
NM_000709.4:c.971_972delinsTC MANE Select	NP_000700.1:p.Phe324=
NM_001164783.2:c.968_969delinsTC	NP_001158255.1:p.Phe323=