Canonical Allele Identifier: CA2576793862

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422952del , CM000681.2:g.41422952del	GRCh38
NC_000019.9:g.41928857del , CM000681.1:g.41928857del	GRCh37
NC_000019.8:g.46620697del	NCBI36
NG_013004.1:g.30164del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-46del MANE Select	ENSP00000269980.2:n.996-46del
ENST00000269980.6:c.996-46del	ENSP00000269980.2:n.996-46del
ENST00000457836.6:c.959del	ENSP00000416000.2:p.His320ProfsTer7
ENST00000540732.3:c.1098-46del	ENSP00000443246.1:n.1098-46del
ENST00000542943.5:c.909-46del	ENSP00000440345.1:n.909-46del
ENST00000595085.5:c.922+255del	ENSP00000471150.2:n.922+255del
NM_000709.3:c.996-46del	NP_000700.1:n.996-46del
NM_001164783.1:c.993-46del	NP_001158255.1:n.993-46del
NM_000709.4:c.996-46del MANE Select	NP_000700.1:n.996-46del
NM_001164783.2:c.993-46del	NP_001158255.1:n.993-46del