Canonical Allele Identifier: CA2580060660

Gene: SDHB

Linked Data

• ClinVar Variation Id: 2090127
• ClinVar RCV Id: RCV003003327

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044823_17044827dup , CM000663.2:g.17044823_17044827dup	GRCh38
NC_000001.10:g.17371318_17371322dup , CM000663.1:g.17371318_17371322dup	GRCh37
NC_000001.9:g.17243905_17243909dup	NCBI36
NG_012340.1:g.14344_14348dup , LRG_316:g.14344_14348dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.-38_-34dup	ENSP00000481376.2:n.-38_-34dup
ENST00000491274.6:c.92_96dup	ENSP00000480482.2:p.Trp33IlefsTer?
ENST00000375499.8:c.134_138dup MANE Select	ENSP00000364649.3:p.Trp47IlefsTer?
ENST00000375499.7:c.134_138dup	ENSP00000364649.3:p.Trp47IlefsTer?
ENST00000463045.2:c.-38_-34dup	ENSP00000481376.1:n.-38_-34dup
ENST00000466613.2:n.146_150dup
ENST00000475506.1:n.51_55dup
ENST00000485515.5:n.122_126dup
ENST00000491274.5:c.92_96dup	ENSP00000480482.1:p.Trp33IlefsTer?
NM_003000.2:c.134_138dup , LRG_316t1:c.134_138dup	NP_002991.2:p.Trp47IlefsTer?
NM_003000.3:c.134_138dup MANE Select	NP_002991.2:p.Trp47IlefsTer?