Canonical Allele Identifier: CA2585308445

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41424453-GAGCAGGCCGAGCGGAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424454_41424469del , CM000681.2:g.41424454_41424469del	GRCh38
NC_000019.9:g.41930359_41930374del , CM000681.1:g.41930359_41930374del	GRCh37
NC_000019.8:g.46622199_46622214del	NCBI36
NG_013004.1:g.31666_31681del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1184_1199del MANE Select	ENSP00000269980.2:p.Glu395GlyfsTer?
ENST00000269980.6:c.1184_1199del	ENSP00000269980.2:p.Glu395GlyfsTer?
ENST00000457836.6:c.1193_1208del	ENSP00000416000.2:p.Glu398GlyfsTer?
ENST00000540732.3:c.1286_1301del	ENSP00000443246.1:p.Glu429GlyfsTer?
ENST00000544905.1:c.62-48_62-33del
ENST00000595085.5:c.922+1757_922+1772del	ENSP00000471150.2:n.922+1757_922+1772del
NM_000709.3:c.1184_1199del	NP_000700.1:p.Glu395GlyfsTer?
NM_001164783.1:c.1181_1196del	NP_001158255.1:p.Glu394GlyfsTer?
NM_000709.4:c.1184_1199del MANE Select	NP_000700.1:p.Glu395GlyfsTer?
NM_001164783.2:c.1181_1196del	NP_001158255.1:p.Glu394GlyfsTer?