Canonical Allele Identifier: CA2814427390

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422208del , CM000681.2:g.41422208del	GRCh38
NC_000019.9:g.41928113del , CM000681.1:g.41928113del	GRCh37
NC_000019.8:g.46619953del	NCBI36
NG_013004.1:g.29420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.691del MANE Select	ENSP00000269980.2:p.Val231SerfsTer?
ENST00000269980.6:c.691del	ENSP00000269980.2:p.Val231SerfsTer?
ENST00000457836.6:c.625del	ENSP00000416000.2:p.Val209SerfsTer?
ENST00000535632.5:n.320del
ENST00000540732.3:c.793del	ENSP00000443246.1:p.Val265SerfsTer?
ENST00000541315.1:c.591del
ENST00000542943.5:c.604del	ENSP00000440345.1:p.Val202SerfsTer?
ENST00000545787.1:n.319del
ENST00000595085.5:c.691del	ENSP00000471150.2:p.Val231SerfsTer?
NM_000709.3:c.691del	NP_000700.1:p.Val231SerfsTer?
NM_001164783.1:c.691del	NP_001158255.1:p.Val231SerfsTer?
NM_000709.4:c.691del MANE Select	NP_000700.1:p.Val231SerfsTer?
NM_001164783.2:c.691del	NP_001158255.1:p.Val231SerfsTer?