Canonical Allele Identifier: CA658799238

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 522650
• ClinVar RCV Id: RCV000625789
• dbSNP Id: rs1555765593
• MyVariant Identifiers: chr19:g.41916576del (hg19) ; chr19:g.41410671del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410671del , CM000681.2:g.41410671del	GRCh38
NC_000019.9:g.41916576del , CM000681.1:g.41916576del	GRCh37
NC_000019.8:g.46608416del	NCBI36
NG_013004.1:g.17883del

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.143del MANE Select	ENSP00000269980.2:p.Leu48ArgfsTer15
ENST00000269980.6:c.143del	ENSP00000269980.2:p.Leu48ArgfsTer15
ENST00000457836.6:c.77del	ENSP00000416000.2:p.Leu26ArgfsTer15
ENST00000538423.5:n.163del
ENST00000540732.3:c.245del	ENSP00000443246.1:p.Leu82ArgfsTer15
ENST00000542943.5:c.143del	ENSP00000440345.1:p.Leu48ArgfsTer15
ENST00000595085.5:c.143del	ENSP00000471150.2:p.Leu48ArgfsTer15
ENST00000604424.1:n.385del
NM_000709.3:c.143del	NP_000700.1:p.Leu48ArgfsTer15
NM_001164783.1:c.143del	NP_001158255.1:p.Leu48ArgfsTer15
NM_000709.4:c.143del MANE Select	NP_000700.1:p.Leu48ArgfsTer15
NM_001164783.2:c.143del	NP_001158255.1:p.Leu48ArgfsTer15