Canonical Allele Identifier: CA645369144

Gene: SDHB

Linked Data

• ClinVar Variation Id: 428930
• ClinVar RCV Id: RCV000492561
• dbSNP Id: rs1131691059

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17024011_17024020delinsCC , CM000663.2:g.17024011_17024020delinsCC	GRCh38
NC_000001.10:g.17350506_17350515delinsCC , CM000663.1:g.17350506_17350515delinsCC	GRCh37
NC_000001.9:g.17223093_17223102delinsCC	NCBI36
NG_012340.1:g.35151_35160delinsGG , LRG_316:g.35151_35160delinsGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.424_433delinsGG	ENSP00000481376.2:p.Tyr142GlyfsTer20
ENST00000491274.6:c.553_562delinsGG	ENSP00000480482.2:p.Tyr185GlyfsTer20
ENST00000375499.8:c.595_604delinsGG MANE Select	ENSP00000364649.3:p.Tyr199GlyfsTer20
ENST00000375499.7:c.595_604delinsGG	ENSP00000364649.3:p.Tyr199GlyfsTer20
ENST00000485515.5:n.529_538delinsGG
ENST00000491274.5:c.553_562delinsGG	ENSP00000480482.1:p.Tyr185GlyfsTer?
NM_003000.2:c.595_604delinsGG , LRG_316t1:c.595_604delinsGG	NP_002991.2:p.Tyr199GlyfsTer20
NM_003000.3:c.595_604delinsGG MANE Select	NP_002991.2:p.Tyr199GlyfsTer20