Canonical Allele Identifier: CA2580060626
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1704532
ClinVar RCV Id: RCV002282859

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17028708_17028718del , CM000663.2:g.17028708_17028718del GRCh38
NC_000001.10:g.17355203_17355213del , CM000663.1:g.17355203_17355213del GRCh37
NC_000001.9:g.17227790_17227800del NCBI36
NG_012340.1:g.30453_30463del , LRG_316:g.30453_30463del

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.134_144del ENSP00000481376.2:p.Ala45GlufsTer13
ENST00000491274.6:c.263_273del ENSP00000480482.2:p.Ala88GlufsTer13
ENST00000375499.8:c.305_315del MANE Select ENSP00000364649.3:p.Ala102GlufsTer13
ENST00000375499.7:c.305_315del ENSP00000364649.3:p.Ala102GlufsTer13
ENST00000463045.2:c.134_144del ENSP00000481376.1:p.Ala45GlufsTer13
ENST00000475506.1:n.222_232del
ENST00000485515.5:n.293_303del
ENST00000491274.5:c.263_273del ENSP00000480482.1:p.Ala88GlufsTer13
NM_003000.2:c.305_315del , LRG_316t1:c.305_315del NP_002991.2:p.Ala102GlufsTer13
NM_003000.3:c.305_315del MANE Select NP_002991.2:p.Ala102GlufsTer13