Canonical Allele Identifier: CA295587

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 166741
• ClinVar RCV Id: RCV000152848 ; RCV000984155 ; RCV002516069 ; RCV001826819
• dbSNP Id: rs398123489
• ExAC: 19:41916543 A / AC
• gnomAD v2: 19-41916543-A-AC
• gnomAD v3: 19-41410638-A-AC
• gnomAD v4: 19-41410638-A-AC
• COSMIC: COSM1393967
• MyVariant Identifiers: chr19:g.41916550dup (hg19) ; chr19:g.41916550dupC (hg19) ; chr19:g.41916544_41916545insC (hg19) ; chr19:g.41916543_41916544insC (hg19) ; chr19:g.41410645dupC (hg38) ; chr19:g.41410638_41410639insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410645dup , CM000681.2:g.41410645dup	GRCh38
NC_000019.9:g.41916550dup , CM000681.1:g.41916550dup	GRCh37
NC_000019.8:g.46608390dup	NCBI36
NG_013004.1:g.17857dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.117dup MANE Select	ENSP00000269980.2:p.Arg40GlnfsTer11
ENST00000269980.6:c.117dup	ENSP00000269980.2:p.Arg40GlnfsTer11
ENST00000457836.6:c.58-7dup	ENSP00000416000.2:n.58-7dup
ENST00000538423.5:n.137dup
ENST00000540732.3:c.219dup	ENSP00000443246.1:p.Arg74GlnfsTer11
ENST00000542943.5:c.117dup	ENSP00000440345.1:p.Arg40GlnfsTer11
ENST00000595085.5:c.117dup	ENSP00000471150.2:p.Arg40GlnfsTer11
ENST00000604424.1:n.359dup
NM_000709.3:c.117dup	NP_000700.1:p.Arg40GlnfsTer11
NM_001164783.1:c.117dup	NP_001158255.1:p.Arg40GlnfsTer11
NM_000709.4:c.117dup MANE Select	NP_000700.1:p.Arg40GlnfsTer11
NM_001164783.2:c.117dup	NP_001158255.1:p.Arg40GlnfsTer11