Canonical Allele Identifier: CA9461132

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2680124
• ClinVar RCV Id: RCV003465162
• dbSNP Id: rs755433978
• ExAC: 19:41919984 G / GGTGAGGAGGGCACGCAC
• gnomAD v2: 19-41919984-G-GGTGAGGAGGGCACGCAC
• MyVariant Identifiers: chr19:g.41919984_41919985insGTGAGGAGGGCACGCAC (hg19) ; chr19:g.41414079_41414080insGTGAGGAGGGCACGCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414083_41414099dup , CM000681.2:g.41414083_41414099dup	GRCh38
NC_000019.9:g.41919988_41920004dup , CM000681.1:g.41919988_41920004dup	GRCh37
NC_000019.8:g.46611828_46611844dup	NCBI36
NG_013004.1:g.21295_21311dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.410_426dup MANE Select	ENSP00000269980.2:p.Gly143ArgfsTer28
ENST00000269980.6:c.410_426dup	ENSP00000269980.2:p.Gly143ArgfsTer28
ENST00000457836.6:c.344_360dup	ENSP00000416000.2:p.Gly121ArgfsTer28
ENST00000538423.5:n.536_552dup
ENST00000540732.3:c.512_528dup	ENSP00000443246.1:p.Gly177ArgfsTer28
ENST00000541315.1:c.217_233dup
ENST00000542943.5:c.323_339dup	ENSP00000440345.1:p.Gly114ArgfsTer28
ENST00000595085.5:c.410_426dup	ENSP00000471150.2:p.Gly143ArgfsTer28
NM_000709.3:c.410_426dup	NP_000700.1:p.Gly143ArgfsTer28
NM_001164783.1:c.410_426dup	NP_001158255.1:p.Gly143ArgfsTer28
NM_000709.4:c.410_426dup MANE Select	NP_000700.1:p.Gly143ArgfsTer28
NM_001164783.2:c.410_426dup	NP_001158255.1:p.Gly143ArgfsTer28