Canonical Allele Identifier: CA2336460070

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424549_41424552delinsCTGG , CM000681.2:g.41424549_41424552delinsCTGG	GRCh38
NC_000019.9:g.41930454_41930457delinsCTGG , CM000681.1:g.41930454_41930457delinsCTGG	GRCh37
NC_000019.8:g.46622294_46622297delinsCTGG	NCBI36
NG_013004.1:g.31761_31764delinsCTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1279_1282delinsCTGG MANE Select	ENSP00000269980.2:p.Leu427=
ENST00000269980.6:c.1279_1282delinsCTGG	ENSP00000269980.2:p.Leu427=
ENST00000457836.6:c.1288_1291delinsCTGG	ENSP00000416000.2:p.Leu430=
ENST00000540732.3:c.1381_1384delinsCTGG	ENSP00000443246.1:p.Leu461=
ENST00000544905.1:c.109_112delinsCTGG
ENST00000595085.5:c.922+1852_922+1855delinsCTGG	ENSP00000471150.2:n.922+1852_922+1855delinsCTGG
NM_000709.3:c.1279_1282delinsCTGG	NP_000700.1:p.Leu427=
NM_001164783.1:c.1276_1279delinsCTGG	NP_001158255.1:p.Leu426=
NM_000709.4:c.1279_1282delinsCTGG MANE Select	NP_000700.1:p.Leu427=
NM_001164783.2:c.1276_1279delinsCTGG	NP_001158255.1:p.Leu426=