Canonical Allele Identifier: CA2739276836

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2782918
• ClinVar RCV Id: RCV003636141

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422313_41422314delinsT , CM000681.2:g.41422313_41422314delinsT	GRCh38
NC_000019.9:g.41928218_41928219delinsT , CM000681.1:g.41928218_41928219delinsT	GRCh37
NC_000019.8:g.46620058_46620059delinsT	NCBI36
NG_013004.1:g.29525_29526delinsT

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.796_797delinsT MANE Select	ENSP00000269980.2:p.Asn266SerfsTer?
ENST00000269980.6:c.796_797delinsT	ENSP00000269980.2:p.Asn266SerfsTer?
ENST00000457836.6:c.730_731delinsT	ENSP00000416000.2:p.Asn244SerfsTer?
ENST00000535632.5:n.425_426delinsT
ENST00000540732.3:c.898_899delinsT	ENSP00000443246.1:p.Asn300SerfsTer?
ENST00000542943.5:c.709_710delinsT	ENSP00000440345.1:p.Asn237SerfsTer?
ENST00000545787.1:n.424_425delinsT
ENST00000595085.5:c.796_797delinsT	ENSP00000471150.2:p.Asn266SerfsTer?
NM_000709.3:c.796_797delinsT	NP_000700.1:p.Asn266SerfsTer?
NM_001164783.1:c.796_797delinsT	NP_001158255.1:p.Asn266SerfsTer?
NM_000709.4:c.796_797delinsT MANE Select	NP_000700.1:p.Asn266SerfsTer?
NM_001164783.2:c.796_797delinsT	NP_001158255.1:p.Asn266SerfsTer?