Canonical Allele Identifier: CA2585307994

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422285-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422286dup , CM000681.2:g.41422286dup	GRCh38
NC_000019.9:g.41928191dup , CM000681.1:g.41928191dup	GRCh37
NC_000019.8:g.46620031dup	NCBI36
NG_013004.1:g.29498dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.769dup MANE Select	ENSP00000269980.2:p.Glu257GlyfsTer21
ENST00000269980.6:c.769dup	ENSP00000269980.2:p.Glu257GlyfsTer21
ENST00000457836.6:c.703dup	ENSP00000416000.2:p.Glu235GlyfsTer21
ENST00000535632.5:n.398dup
ENST00000540732.3:c.871dup	ENSP00000443246.1:p.Glu291GlyfsTer21
ENST00000542943.5:c.682dup	ENSP00000440345.1:p.Glu228GlyfsTer21
ENST00000545787.1:n.397dup
ENST00000595085.5:c.769dup	ENSP00000471150.2:p.Glu257GlyfsTer21
NM_000709.3:c.769dup	NP_000700.1:p.Glu257GlyfsTer21
NM_001164783.1:c.769dup	NP_001158255.1:p.Glu257GlyfsTer21
NM_000709.4:c.769dup MANE Select	NP_000700.1:p.Glu257GlyfsTer21
NM_001164783.2:c.769dup	NP_001158255.1:p.Glu257GlyfsTer21