Canonical Allele Identifier: CA2336453779

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2680123
• ClinVar RCV Id: RCV003465161
• dbSNP Id: rs2039242108

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410692del , CM000681.2:g.41410692del	GRCh38
NC_000019.9:g.41916597del , CM000681.1:g.41916597del	GRCh37
NC_000019.8:g.46608437del	NCBI36
NG_013004.1:g.17904del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.164del MANE Select	ENSP00000269980.2:p.Pro55GlnfsTer8
ENST00000269980.6:c.164del	ENSP00000269980.2:p.Pro55GlnfsTer8
ENST00000457836.6:c.98del	ENSP00000416000.2:p.Pro33GlnfsTer8
ENST00000538423.5:n.184del
ENST00000540732.3:c.266del	ENSP00000443246.1:p.Pro89GlnfsTer8
ENST00000542943.5:c.164del	ENSP00000440345.1:p.Pro55GlnfsTer8
ENST00000595085.5:c.164del	ENSP00000471150.2:p.Pro55GlnfsTer8
ENST00000604424.1:n.406del
NM_000709.3:c.164del	NP_000700.1:p.Pro55GlnfsTer8
NM_001164783.1:c.164del	NP_001158255.1:p.Pro55GlnfsTer8
NM_000709.4:c.164del MANE Select	NP_000700.1:p.Pro55GlnfsTer8
NM_001164783.2:c.164del	NP_001158255.1:p.Pro55GlnfsTer8