Canonical Allele Identifier: CA221190
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93349
dbSNP Id: rs398123494

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41397841del , CM000681.2:g.41397841del GRCh38
NC_000019.9:g.41903746del , CM000681.1:g.41903746del GRCh37
NC_000019.8:g.46595586del NCBI36
NG_013004.1:g.5053del

Transcript Alleles

HGVS Amino-acid change
ENST00000269980.7:c.14del MANE Select ENSP00000269980.2:p.Ile5ThrfsTer9
ENST00000269980.6:c.14del ENSP00000269980.2:p.Ile5ThrfsTer9
ENST00000457836.6:c.14del ENSP00000416000.2:p.Ile5ThrfsTer9
ENST00000538423.5:n.34del
ENST00000540732.3:c.211-12796del ENSP00000443246.1:n.211-12796del
ENST00000542943.5:c.14del ENSP00000440345.1:p.Ile5ThrfsTer9
ENST00000595085.5:c.14del ENSP00000471150.2:p.Ile5ThrfsTer9
ENST00000604424.1:n.351-12796del
NM_000709.3:c.14del NP_000700.1:p.Ile5ThrfsTer9
NM_001164783.1:c.14del NP_001158255.1:p.Ile5ThrfsTer9
NM_000709.4:c.14del MANE Select NP_000700.1:p.Ile5ThrfsTer9
NM_001164783.2:c.14del NP_001158255.1:p.Ile5ThrfsTer9