Canonical Allele Identifier: CA658824991

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422767dup , CM000681.2:g.41422767dup	GRCh38
NC_000019.9:g.41928672dup , CM000681.1:g.41928672dup	GRCh37
NC_000019.8:g.46620512dup	NCBI36
NG_013004.1:g.29979dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000709.4:c.992dup MANE Select	NP_000700.1:p.Tyr331Ter
ENST00000269980.7:c.992dup MANE Select	ENSP00000269980.2:p.Tyr331Ter
NM_000709.3:c.992dup	NP_000700.1:p.Tyr331Ter
NM_001164783.1:c.989dup	NP_001158255.1:p.Tyr330Ter
NM_001164783.2:c.989dup	NP_001158255.1:p.Tyr330Ter
ENST00000269980.6:c.992dup	ENSP00000269980.2:p.Tyr331Ter
ENST00000457836.6:c.926dup	ENSP00000416000.2:p.Tyr309Ter
ENST00000540732.3:c.1094dup	ENSP00000443246.1:p.Tyr365Ter
ENST00000542943.5:c.905dup	ENSP00000440345.1:p.Tyr302Ter
ENST00000595085.5:c.922+70dup	ENSP00000471150.2:n.922+70dup