Canonical Allele Identifier: CA2580611140
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1755530

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022694_17022695del , CM000663.2:g.17022694_17022695del GRCh38
NC_000001.10:g.17349189_17349190del , CM000663.1:g.17349189_17349190del GRCh37
NC_000001.9:g.17221776_17221777del NCBI36
NG_012340.1:g.36478_36479del , LRG_316:g.36478_36479del

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.509_510del ENSP00000481376.2:p.Thr170ArgfsTer28
ENST00000491274.6:c.638_639del ENSP00000480482.2:p.Thr213ArgfsTer28
ENST00000375499.8:c.680_681del MANE Select ENSP00000364649.3:p.Thr227ArgfsTer28
ENST00000375499.7:c.680_681del ENSP00000364649.3:p.Thr227ArgfsTer28
ENST00000475049.5:n.105_106del
ENST00000485092.5:n.344_345del
ENST00000485515.5:n.614_615del
NM_003000.2:c.680_681del , LRG_316t1:c.680_681del NP_002991.2:p.Thr227ArgfsTer28
NM_003000.3:c.680_681del MANE Select NP_002991.2:p.Thr227ArgfsTer28