Canonical Allele Identifier: CA2576793788

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41414060-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414062del , CM000681.2:g.41414062del	GRCh38
NC_000019.9:g.41919967del , CM000681.1:g.41919967del	GRCh37
NC_000019.8:g.46611807del	NCBI36
NG_013004.1:g.21274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.389del MANE Select	ENSP00000269980.2:p.Phe130SerfsTer3
ENST00000269980.6:c.389del	ENSP00000269980.2:p.Phe130SerfsTer3
ENST00000457836.6:c.323del	ENSP00000416000.2:p.Phe108SerfsTer3
ENST00000538423.5:n.515del
ENST00000540732.3:c.491del	ENSP00000443246.1:p.Phe164SerfsTer3
ENST00000541315.1:c.196del
ENST00000542943.5:c.302del	ENSP00000440345.1:p.Phe101SerfsTer3
ENST00000595085.5:c.389del	ENSP00000471150.2:p.Phe130SerfsTer3
NM_000709.3:c.389del	NP_000700.1:p.Phe130SerfsTer3
NM_001164783.1:c.389del	NP_001158255.1:p.Phe130SerfsTer3
NM_000709.4:c.389del MANE Select	NP_000700.1:p.Phe130SerfsTer3
NM_001164783.2:c.389del	NP_001158255.1:p.Phe130SerfsTer3