Canonical Allele Identifier: CA16609938
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 412453
ClinVar RCV Id: RCV000477482 RCV000505308
dbSNP Id: rs1060503751
MyVariant Identifiers: chr1:g.17355186_17355187del (hg19) chr1:g.17028691_17028692del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17028693_17028694del , CM000663.2:g.17028693_17028694del GRCh38
NC_000001.10:g.17355188_17355189del , CM000663.1:g.17355188_17355189del GRCh37
NC_000001.9:g.17227775_17227776del NCBI36
NG_012340.1:g.30479_30480del , LRG_316:g.30479_30480del

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.160_161del ENSP00000481376.2:p.Leu54SerfsTer7
ENST00000491274.6:c.289_290del ENSP00000480482.2:p.Leu97SerfsTer7
ENST00000375499.8:c.331_332del MANE Select ENSP00000364649.3:p.Leu111SerfsTer7
ENST00000375499.7:c.331_332del ENSP00000364649.3:p.Leu111SerfsTer7
ENST00000463045.2:c.160_161del ENSP00000481376.1:p.Leu54SerfsTer7
ENST00000475506.1:n.248_249del
ENST00000485515.5:n.319_320del
ENST00000491274.5:c.289_290del ENSP00000480482.1:p.Leu97SerfsTer7
NM_003000.2:c.331_332del , LRG_316t1:c.331_332del NP_002991.2:p.Leu111SerfsTer7
NM_003000.3:c.331_332del MANE Select NP_002991.2:p.Leu111SerfsTer7
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