Canonical Allele Identifier: CA9461266

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2157299
• ClinVar RCV Id: RCV003078024
• dbSNP Id: rs755451300
• ExAC: 19:41928256 GT / G
• gnomAD v2: 19-41928256-GT-G
• gnomAD v4: 19-41422351-GT-G
• MyVariant Identifiers: chr19:g.41928257del (hg19) ; chr19:g.41422352del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422352del , CM000681.2:g.41422352del	GRCh38
NC_000019.9:g.41928257del , CM000681.1:g.41928257del	GRCh37
NC_000019.8:g.46620097del	NCBI36
NG_013004.1:g.29564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.835del MANE Select	ENSP00000269980.2:p.Tyr279IlefsTer?
ENST00000269980.6:c.835del	ENSP00000269980.2:p.Tyr279IlefsTer?
ENST00000457836.6:c.769del	ENSP00000416000.2:p.Tyr257IlefsTer?
ENST00000535632.5:n.464del
ENST00000540732.3:c.937del	ENSP00000443246.1:p.Tyr313IlefsTer?
ENST00000542943.5:c.748del	ENSP00000440345.1:p.Tyr250IlefsTer?
ENST00000545787.1:n.463del
ENST00000595085.5:c.835del	ENSP00000471150.2:p.Tyr279IlefsTer?
NM_000709.3:c.835del	NP_000700.1:p.Tyr279IlefsTer?
NM_001164783.1:c.835del	NP_001158255.1:p.Tyr279IlefsTer?
NM_000709.4:c.835del MANE Select	NP_000700.1:p.Tyr279IlefsTer?
NM_001164783.2:c.835del	NP_001158255.1:p.Tyr279IlefsTer?