Canonical Allele Identifier: CA2336458992

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422190_41422191delinsCG , CM000681.2:g.41422190_41422191delinsCG	GRCh38
NC_000019.9:g.41928095_41928096delinsCG , CM000681.1:g.41928095_41928096delinsCG	GRCh37
NC_000019.8:g.46619935_46619936delinsCG	NCBI36
NG_013004.1:g.29402_29403delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.673_674delinsCG MANE Select	ENSP00000269980.2:p.Arg225=
ENST00000269980.6:c.673_674delinsCG	ENSP00000269980.2:p.Arg225=
ENST00000457836.6:c.607_608delinsCG	ENSP00000416000.2:p.Arg203=
ENST00000535632.5:n.302_303delinsCG
ENST00000538423.5:n.799_800delinsCG
ENST00000540732.3:c.775_776delinsCG	ENSP00000443246.1:p.Arg259=
ENST00000541315.1:c.573_574delinsCG
ENST00000542943.5:c.586_587delinsCG	ENSP00000440345.1:p.Arg196=
ENST00000545787.1:n.301_302delinsCG
ENST00000595085.5:c.673_674delinsCG	ENSP00000471150.2:p.Arg225=
NM_000709.3:c.673_674delinsCG	NP_000700.1:p.Arg225=
NM_001164783.1:c.673_674delinsCG	NP_001158255.1:p.Arg225=
NM_000709.4:c.673_674delinsCG MANE Select	NP_000700.1:p.Arg225=
NM_001164783.2:c.673_674delinsCG	NP_001158255.1:p.Arg225=