Canonical Allele Identifier: CA308524905

Gene: BCKDHA

Linked Data

• dbSNP Id: rs112312448

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422748del , CM000681.2:g.41422748del	GRCh38
NC_000019.9:g.41928653del , CM000681.1:g.41928653del	GRCh37
NC_000019.8:g.46620493del	NCBI36
NG_013004.1:g.29960del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.973del MANE Select	ENSP00000269980.2:p.Leu325SerfsTer5
ENST00000269980.6:c.973del	ENSP00000269980.2:p.Leu325SerfsTer5
ENST00000457836.6:c.907del	ENSP00000416000.2:p.Leu303SerfsTer5
ENST00000535632.5:n.602del
ENST00000540732.3:c.1075del	ENSP00000443246.1:p.Leu359SerfsTer5
ENST00000542943.5:c.886del	ENSP00000440345.1:p.Leu296SerfsTer5
ENST00000595085.5:c.922+51del	ENSP00000471150.2:n.922+51del
NM_000709.3:c.973del	NP_000700.1:p.Leu325SerfsTer5
NM_001164783.1:c.970del	NP_001158255.1:p.Leu324SerfsTer5
NM_000709.4:c.973del MANE Select	NP_000700.1:p.Leu325SerfsTer5
NM_001164783.2:c.970del	NP_001158255.1:p.Leu324SerfsTer5