Canonical Allele Identifier: CA645369145
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 428928
ClinVar RCV Id: RCV000492122 RCV000722044 RCV002523989 RCV003449384
dbSNP Id: rs1131691057
MyVariant Identifiers: chr1:g.17380444dup (hg19) chr1:g.17380443_17380444insT (hg19) chr1:g.17053949dup (hg38) chr1:g.17053948_17053949insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17053949dup , CM000663.2:g.17053949dup GRCh38
NC_000001.10:g.17380444dup , CM000663.1:g.17380444dup GRCh37
NC_000001.9:g.17253031dup NCBI36
NG_012340.1:g.5222dup , LRG_316:g.5222dup

Transcript Alleles

HGVS Amino-acid change
ENST00000375499.8:c.71dup MANE Select ENSP00000364649.3:p.Ala25GlyfsTer?
ENST00000375499.7:c.71dup ENSP00000364649.3:p.Ala25GlyfsTer?
ENST00000466613.2:n.83dup
ENST00000485515.5:n.59dup
NM_003000.2:c.71dup , LRG_316t1:c.71dup NP_002991.2:p.Ala25GlyfsTer?
NM_003000.3:c.71dup MANE Select NP_002991.2:p.Ala25GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'