Canonical Allele Identifier: CA221212
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93370
dbSNP Id: rs398123504

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41422258dup , CM000681.2:g.41422258dup GRCh38
NC_000019.9:g.41928163dup , CM000681.1:g.41928163dup GRCh37
NC_000019.8:g.46620003dup NCBI36
NG_013004.1:g.29470dup

Transcript Alleles

HGVS Amino-acid change
ENST00000269980.7:c.741dup MANE Select ENSP00000269980.2:p.Ala248CysfsTer10
ENST00000269980.6:c.741dup ENSP00000269980.2:p.Ala248CysfsTer10
ENST00000457836.6:c.675dup ENSP00000416000.2:p.Ala226CysfsTer10
ENST00000535632.5:n.370dup
ENST00000540732.3:c.843dup ENSP00000443246.1:p.Ala282CysfsTer10
ENST00000542943.5:c.654dup ENSP00000440345.1:p.Ala219CysfsTer10
ENST00000545787.1:n.369dup
ENST00000595085.5:c.741dup ENSP00000471150.2:p.Ala248CysfsTer10
NM_000709.3:c.741dup NP_000700.1:p.Ala248CysfsTer10
NM_001164783.1:c.741dup NP_001158255.1:p.Ala248CysfsTer10
NM_000709.4:c.741dup MANE Select NP_000700.1:p.Ala248CysfsTer10
NM_001164783.2:c.741dup NP_001158255.1:p.Ala248CysfsTer10