Canonical Allele Identifier: CA221181

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 93342
• ClinVar RCV Id: RCV000079223 ; RCV000175640 ; RCV001193901
• dbSNP Id: rs398123489
• ExAC: 19:41916543 AC / A
• gnomAD v2: 19-41916543-AC-A
• gnomAD v3: 19-41410638-AC-A
• gnomAD v4: 19-41410638-AC-A
• COSMIC: COSM1393968
• MyVariant Identifiers: chr19:g.41916550del (hg19) ; chr19:g.41916544del (hg19) ; chr19:g.41916550delC (hg19) ; chr19:g.41410645del (hg38) ; chr19:g.41410640del (hg38) ; chr19:g.41410639del (hg38)
• PubMed: PMID:16468966 ; PMID:19456321 ; PMID:26232051

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.117del MANE Select	ENSP00000269980.2:p.Arg40GlyfsTer23
ENST00000269980.6:c.117del	ENSP00000269980.2:p.Arg40GlyfsTer23
ENST00000457836.6:c.58-7del	ENSP00000416000.2:n.58-7del
ENST00000538423.5:n.137del
ENST00000540732.3:c.219del	ENSP00000443246.1:p.Arg74GlyfsTer23
ENST00000542943.5:c.117del	ENSP00000440345.1:p.Arg40GlyfsTer23
ENST00000595085.5:c.117del	ENSP00000471150.2:p.Arg40GlyfsTer23
ENST00000604424.1:n.359del
NM_000709.3:c.117del	NP_000700.1:p.Arg40GlyfsTer23
NM_001164783.1:c.117del	NP_001158255.1:p.Arg40GlyfsTer23
NM_000709.4:c.117del MANE Select	NP_000700.1:p.Arg40GlyfsTer23
NM_001164783.2:c.117del	NP_001158255.1:p.Arg40GlyfsTer23