Canonical Allele Identifier: CA645614573

Gene: BCKDHA

Linked Data

• COSMIC: COSM4517842

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414113_41414114delinsTT , CM000681.2:g.41414113_41414114delinsTT	GRCh38
NC_000019.9:g.41920018_41920019delinsTT , CM000681.1:g.41920018_41920019delinsTT	GRCh37
NC_000019.8:g.46611858_46611859delinsTT	NCBI36
NG_013004.1:g.21325_21326delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.440_441delinsTT MANE Select	ENSP00000269980.2:p.Ala147Val
ENST00000269980.6:c.440_441delinsTT	ENSP00000269980.2:p.Ala147Val
ENST00000457836.6:c.374_375delinsTT	ENSP00000416000.2:p.Ala125Val
ENST00000538423.5:n.566_567delinsTT
ENST00000540732.3:c.542_543delinsTT	ENSP00000443246.1:p.Ala181Val
ENST00000541315.1:c.247_248delinsTT
ENST00000542943.5:c.353_354delinsTT	ENSP00000440345.1:p.Ala118Val
ENST00000595085.5:c.440_441delinsTT	ENSP00000471150.2:p.Ala147Val
NM_000709.3:c.440_441delinsTT	NP_000700.1:p.Ala147Val
NM_001164783.1:c.440_441delinsTT	NP_001158255.1:p.Ala147Val
NM_000709.4:c.440_441delinsTT MANE Select	NP_000700.1:p.Ala147Val
NM_001164783.2:c.440_441delinsTT	NP_001158255.1:p.Ala147Val