Canonical Allele Identifier: CA658823825

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 553458
• ClinVar RCV Id: RCV000668918
• dbSNP Id: rs1555767305
• MyVariant Identifiers: chr19:g.41424540_41424542del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424540_41424542del , CM000681.2:g.41424540_41424542del	GRCh38
NC_000019.9:g.41930445_41930447del , CM000681.1:g.41930445_41930447del	GRCh37
NC_000019.8:g.46622285_46622287del	NCBI36
NG_013004.1:g.31752_31754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1270_1272del MANE Select	ENSP00000269980.2:p.Gln424del
ENST00000269980.6:c.1270_1272del	ENSP00000269980.2:p.Gln424del
ENST00000457836.6:c.1279_1281del	ENSP00000416000.2:p.Gln427del
ENST00000540732.3:c.1372_1374del	ENSP00000443246.1:p.Gln458del
ENST00000544905.1:c.100_102del
ENST00000595085.5:c.922+1843_922+1845del	ENSP00000471150.2:n.922+1843_922+1845del
NM_000709.3:c.1270_1272del	NP_000700.1:p.Gln424del
NM_001164783.1:c.1267_1269del	NP_001158255.1:p.Gln423del
NM_000709.4:c.1270_1272del MANE Select	NP_000700.1:p.Gln424del
NM_001164783.2:c.1267_1269del	NP_001158255.1:p.Gln423del