Canonical Allele Identifier: CA2336453771

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410670_41410671delinsCT , CM000681.2:g.41410670_41410671delinsCT	GRCh38
NC_000019.9:g.41916575_41916576delinsCT , CM000681.1:g.41916575_41916576delinsCT	GRCh37
NC_000019.8:g.46608415_46608416delinsCT	NCBI36
NG_013004.1:g.17882_17883delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.142_143delinsCT MANE Select	ENSP00000269980.2:p.Leu48=
ENST00000269980.6:c.142_143delinsCT	ENSP00000269980.2:p.Leu48=
ENST00000457836.6:c.76_77delinsCT	ENSP00000416000.2:p.Leu26=
ENST00000538423.5:n.162_163delinsCT
ENST00000540732.3:c.244_245delinsCT	ENSP00000443246.1:p.Leu82=
ENST00000542943.5:c.142_143delinsCT	ENSP00000440345.1:p.Leu48=
ENST00000595085.5:c.142_143delinsCT	ENSP00000471150.2:p.Leu48=
ENST00000604424.1:n.384_385delinsCT
NM_000709.3:c.142_143delinsCT	NP_000700.1:p.Leu48=
NM_001164783.1:c.142_143delinsCT	NP_001158255.1:p.Leu48=
NM_000709.4:c.142_143delinsCT MANE Select	NP_000700.1:p.Leu48=
NM_001164783.2:c.142_143delinsCT	NP_001158255.1:p.Leu48=