Canonical Allele Identifier: CA2336459049

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422298_41422301delinsATCT , CM000681.2:g.41422298_41422301delinsATCT	GRCh38
NC_000019.9:g.41928203_41928206delinsATCT , CM000681.1:g.41928203_41928206delinsATCT	GRCh37
NC_000019.8:g.46620043_46620046delinsATCT	NCBI36
NG_013004.1:g.29510_29513delinsATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.781_784delinsATCT MANE Select	ENSP00000269980.2:p.Ile261=
ENST00000269980.6:c.781_784delinsATCT	ENSP00000269980.2:p.Ile261=
ENST00000457836.6:c.715_718delinsATCT	ENSP00000416000.2:p.Ile239=
ENST00000535632.5:n.410_413delinsATCT
ENST00000540732.3:c.883_886delinsATCT	ENSP00000443246.1:p.Ile295=
ENST00000542943.5:c.694_697delinsATCT	ENSP00000440345.1:p.Ile232=
ENST00000545787.1:n.409_412delinsATCT
ENST00000595085.5:c.781_784delinsATCT	ENSP00000471150.2:p.Ile261=
NM_000709.3:c.781_784delinsATCT	NP_000700.1:p.Ile261=
NM_001164783.1:c.781_784delinsATCT	NP_001158255.1:p.Ile261=
NM_000709.4:c.781_784delinsATCT MANE Select	NP_000700.1:p.Ile261=
NM_001164783.2:c.781_784delinsATCT	NP_001158255.1:p.Ile261=