Canonical Allele Identifier: CA2695198207

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2680114
• ClinVar RCV Id: RCV003465152

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422314_41422315delinsT , CM000681.2:g.41422314_41422315delinsT	GRCh38
NC_000019.9:g.41928219_41928220delinsT , CM000681.1:g.41928219_41928220delinsT	GRCh37
NC_000019.8:g.46620059_46620060delinsT	NCBI36
NG_013004.1:g.29526_29527delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.797_798delinsT MANE Select	ENSP00000269980.2:p.Asn266IlefsTer?
ENST00000269980.6:c.797_798delinsT	ENSP00000269980.2:p.Asn266IlefsTer?
ENST00000457836.6:c.731_732delinsT	ENSP00000416000.2:p.Asn244IlefsTer?
ENST00000535632.5:n.426_427delinsT
ENST00000540732.3:c.899_900delinsT	ENSP00000443246.1:p.Asn300IlefsTer?
ENST00000542943.5:c.710_711delinsT	ENSP00000440345.1:p.Asn237IlefsTer?
ENST00000545787.1:n.425_426delinsT
ENST00000595085.5:c.797_798delinsT	ENSP00000471150.2:p.Asn266IlefsTer?
NM_000709.3:c.797_798delinsT	NP_000700.1:p.Asn266IlefsTer?
NM_001164783.1:c.797_798delinsT	NP_001158255.1:p.Asn266IlefsTer?
NM_000709.4:c.797_798delinsT MANE Select	NP_000700.1:p.Asn266IlefsTer?
NM_001164783.2:c.797_798delinsT	NP_001158255.1:p.Asn266IlefsTer?