Allele Registry

Canonical Allele Identifier: CA016035

Gene: SDHB HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.17023999_17024008del

GRCh37 chr1:g.17350494_17350503del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000131995

RCV000633970

RCV000657287

ClinVar Variation:

142653

dbSNP:

587782617

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17023999_17024008del , CM000663.2:g.17023999_17024008del	GRCh38
NC_000001.10:g.17350494_17350503del , CM000663.1:g.17350494_17350503del	GRCh37
NC_000001.9:g.17223081_17223090del	NCBI36
NG_012340.1:g.35163_35172del , LRG_316:g.35163_35172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.436_445del	ENSP00000481376.2:p.Gly146IlefsTer14
ENST00000491274.6:c.565_574del	ENSP00000480482.2:p.Gly189IlefsTer14
ENST00000375499.8:c.607_616del MANE Select	ENSP00000364649.3:p.Gly203IlefsTer14
ENST00000375499.7:c.607_616del	ENSP00000364649.3:p.Gly203IlefsTer14
ENST00000485515.5:n.541_550del
ENST00000491274.5:c.565_574del	ENSP00000480482.1:p.Gly189IlefsTer?
NM_003000.2:c.607_616del , LRG_316t1:c.607_616del	NP_002991.2:p.Gly203IlefsTer14
NM_003000.3:c.607_616del MANE Select	NP_002991.2:p.Gly203IlefsTer14

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