Canonical Allele Identifier: CA2573054776

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1325805
• ClinVar RCV Id: RCV001785342 ; RCV003222346
• dbSNP Id: rs2122143379

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422290_41422291delinsAA , CM000681.2:g.41422290_41422291delinsAA	GRCh38
NC_000019.9:g.41928195_41928196delinsAA , CM000681.1:g.41928195_41928196delinsAA	GRCh37
NC_000019.8:g.46620035_46620036delinsAA	NCBI36
NG_013004.1:g.29502_29503delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.773_774delinsAA MANE Select	ENSP00000269980.2:p.Cys258Ter
ENST00000269980.6:c.773_774delinsAA	ENSP00000269980.2:p.Cys258Ter
ENST00000457836.6:c.707_708delinsAA	ENSP00000416000.2:p.Cys236Ter
ENST00000535632.5:n.402_403delinsAA
ENST00000540732.3:c.875_876delinsAA	ENSP00000443246.1:p.Cys292Ter
ENST00000542943.5:c.686_687delinsAA	ENSP00000440345.1:p.Cys229Ter
ENST00000545787.1:n.401_402delinsAA
ENST00000595085.5:c.773_774delinsAA	ENSP00000471150.2:p.Cys258Ter
NM_000709.3:c.773_774delinsAA	NP_000700.1:p.Cys258Ter
NM_001164783.1:c.773_774delinsAA	NP_001158255.1:p.Cys258Ter
NM_000709.4:c.773_774delinsAA MANE Select	NP_000700.1:p.Cys258Ter
NM_001164783.2:c.773_774delinsAA	NP_001158255.1:p.Cys258Ter