Canonical Allele Identifier: CA16609911
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 412481
ClinVar RCV Id: RCV000475105 RCV000492377
dbSNP Id: rs1060503764
MyVariant Identifiers: chr1:g.17349151dupA (hg19) chr1:g.17349150_17349151insA (hg19) chr1:g.17022656dupA (hg38) chr1:g.17022655_17022656insA (hg38)
PubMed: PMID:16314641 PMID:17848412 PMID:19351833
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022656dup , CM000663.2:g.17022656dup GRCh38
NC_000001.10:g.17349151dup , CM000663.1:g.17349151dup GRCh37
NC_000001.9:g.17221738dup NCBI36
NG_012340.1:g.36515dup , LRG_316:g.36515dup

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.546dup ENSP00000481376.2:p.Leu183SerfsTer16
ENST00000491274.6:c.675dup ENSP00000480482.2:p.Leu226SerfsTer16
ENST00000375499.8:c.717dup MANE Select ENSP00000364649.3:p.Leu240SerfsTer16
ENST00000375499.7:c.717dup ENSP00000364649.3:p.Leu240SerfsTer16
ENST00000475049.5:n.142dup
ENST00000485092.5:n.381dup
ENST00000485515.5:n.651dup
NM_003000.2:c.717dup , LRG_316t1:c.717dup NP_002991.2:p.Leu240SerfsTer16
NM_003000.3:c.717dup MANE Select NP_002991.2:p.Leu240SerfsTer16
Search 100 bp 5'
Search 100 bp 3'