Canonical Allele Identifier: CA2336459038

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1724918
• ClinVar RCV Id: RCV002307977
• dbSNP Id: rs2039375116

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422272_41422273insA , CM000681.2:g.41422272_41422273insA	GRCh38
NC_000019.9:g.41928177_41928178insA , CM000681.1:g.41928177_41928178insA	GRCh37
NC_000019.8:g.46620017_46620018insA	NCBI36
NG_013004.1:g.29484_29485insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.755_756insA MANE Select	ENSP00000269980.2:p.Phe252LeufsTer6
ENST00000269980.6:c.755_756insA	ENSP00000269980.2:p.Phe252LeufsTer6
ENST00000457836.6:c.689_690insA	ENSP00000416000.2:p.Phe230LeufsTer6
ENST00000535632.5:n.384_385insA
ENST00000540732.3:c.857_858insA	ENSP00000443246.1:p.Phe286LeufsTer6
ENST00000542943.5:c.668_669insA	ENSP00000440345.1:p.Phe223LeufsTer6
ENST00000545787.1:n.383_384insA
ENST00000595085.5:c.755_756insA	ENSP00000471150.2:p.Phe252LeufsTer6
NM_000709.3:c.755_756insA	NP_000700.1:p.Phe252LeufsTer6
NM_001164783.1:c.755_756insA	NP_001158255.1:p.Phe252LeufsTer6
NM_000709.4:c.755_756insA MANE Select	NP_000700.1:p.Phe252LeufsTer6
NM_001164783.2:c.755_756insA	NP_001158255.1:p.Phe252LeufsTer6