Canonical Allele Identifier: CA16617019
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 421424
ClinVar RCV Id: RCV000485215 RCV000696403 RCV002413330
dbSNP Id: rs1553176976
MyVariant Identifiers: chr1:g.17345432_17345435dupTAGC (hg19) chr1:g.17345431_17345432insTAGC (hg19) chr1:g.17018937_17018940dupTAGC (hg38) chr1:g.17018936_17018937insTAGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17018938_17018941dup , CM000663.2:g.17018938_17018941dup GRCh38
NC_000001.10:g.17345433_17345436dup , CM000663.1:g.17345433_17345436dup GRCh37
NC_000001.9:g.17218020_17218023dup NCBI36
NG_012340.1:g.40231_40234dup , LRG_316:g.40231_40234dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.613_616dup ENSP00000481376.2:p.Ile206SerfsTer13
ENST00000491274.6:c.742_745dup ENSP00000480482.2:p.Ile249SerfsTer13
ENST00000375499.8:c.784_787dup MANE Select ENSP00000364649.3:p.Ile263SerfsTer13
ENST00000375499.7:c.784_787dup ENSP00000364649.3:p.Ile263SerfsTer13
ENST00000475049.5:n.209_212dup
ENST00000485092.5:n.448_451dup
NM_003000.2:c.784_787dup , LRG_316t1:c.784_787dup NP_002991.2:p.Ile263SerfsTer13
NM_003000.3:c.784_787dup MANE Select NP_002991.2:p.Ile263SerfsTer13
Search 100 bp 5'
Search 100 bp 3'