Canonical Allele Identifier: CA2585308447

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2758939
• ClinVar RCV Id: RCV003524677
• gnomAD v4: 19-41424506-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424507dup , CM000681.2:g.41424507dup	GRCh38
NC_000019.9:g.41930412dup , CM000681.1:g.41930412dup	GRCh37
NC_000019.8:g.46622252dup	NCBI36
NG_013004.1:g.31719dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.1237dup MANE Select	ENSP00000269980.2:p.Tyr413LeufsTer?
ENST00000269980.6:c.1237dup	ENSP00000269980.2:p.Tyr413LeufsTer?
ENST00000457836.6:c.1246dup	ENSP00000416000.2:p.Tyr416LeufsTer?
ENST00000540732.3:c.1339dup	ENSP00000443246.1:p.Tyr447LeufsTer?
ENST00000544905.1:c.67dup
ENST00000595085.5:c.922+1810dup	ENSP00000471150.2:n.922+1810dup
NM_000709.3:c.1237dup	NP_000700.1:p.Tyr413LeufsTer?
NM_001164783.1:c.1234dup	NP_001158255.1:p.Tyr412LeufsTer?
NM_000709.4:c.1237dup MANE Select	NP_000700.1:p.Tyr413LeufsTer?
NM_001164783.2:c.1234dup	NP_001158255.1:p.Tyr412LeufsTer?