Canonical Allele Identifier: CA188076

Gene: SDHB

Linked Data

• ClinVar Variation Id: 184177
• ClinVar RCV Id: RCV000163361 ; RCV000801474 ; RCV001781508 ; RCV003407605
• dbSNP Id: rs786201316
• MyVariant Identifiers: chr1:g.17355207delinsCC (hg19) ; chr1:g.17028712delinsCC (hg38)
• PubMed: PMID:16317055 ; PMID:19215943 ; PMID:25972245

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17028712delinsCC , CM000663.2:g.17028712delinsCC	GRCh38
NC_000001.10:g.17355207delinsCC , CM000663.1:g.17355207delinsCC	GRCh37
NC_000001.9:g.17227794delinsCC	NCBI36
NG_012340.1:g.30459delinsGG , LRG_316:g.30459delinsGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.140delinsGG	ENSP00000481376.2:p.Asn47ArgfsTer15
ENST00000491274.6:c.269delinsGG	ENSP00000480482.2:p.Asn90ArgfsTer15
ENST00000375499.8:c.311delinsGG MANE Select	ENSP00000364649.3:p.Asn104ArgfsTer15
ENST00000375499.7:c.311delinsGG	ENSP00000364649.3:p.Asn104ArgfsTer15
ENST00000463045.2:c.140delinsGG	ENSP00000481376.1:p.Asn47ArgfsTer15
ENST00000475506.1:n.228delinsGG
ENST00000485515.5:n.299delinsGG
ENST00000491274.5:c.269delinsGG	ENSP00000480482.1:p.Asn90ArgfsTer15
NM_003000.2:c.311delinsGG , LRG_316t1:c.311delinsGG	NP_002991.2:p.Asn104ArgfsTer15
NM_003000.3:c.311delinsGG MANE Select	NP_002991.2:p.Asn104ArgfsTer15