Canonical Allele Identifier: CA913187507
Gene: SDHB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022616del , CM000663.2:g.17022616del GRCh38
NC_000001.10:g.17349111del , CM000663.1:g.17349111del GRCh37
NC_000001.9:g.17221698del NCBI36
NG_012340.1:g.36555del , LRG_316:g.36555del

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.586del ENSP00000481376.2:p.Cys196ValfsTer5
ENST00000491274.6:c.715del ENSP00000480482.2:p.Cys239ValfsTer5
ENST00000375499.8:c.757del MANE Select ENSP00000364649.3:p.Cys253ValfsTer5
ENST00000375499.7:c.757del ENSP00000364649.3:p.Cys253ValfsTer5
ENST00000475049.5:n.182del
ENST00000485092.5:n.421del
ENST00000485515.5:n.691del
NM_003000.2:c.757del , LRG_316t1:c.757del NP_002991.2:p.Cys253ValfsTer5
NM_003000.3:c.757del MANE Select NP_002991.2:p.Cys253ValfsTer5