Canonical Allele Identifier: CA890972251

Gene: SDHB

Linked Data

• ClinVar Variation Id: 1638613
• ClinVar RCV Id: RCV002126305 ; RCV002465928
• dbSNP Id: rs1365741915
• gnomAD v4: 1-17027875-A-AGAG
• MyVariant Identifiers: chr1:g.17354370_17354371insGAG (hg19) ; chr1:g.17027875_17027876insGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027878_17027880dup , CM000663.2:g.17027878_17027880dup	GRCh38
NC_000001.10:g.17354373_17354375dup , CM000663.1:g.17354373_17354375dup	GRCh37
NC_000001.9:g.17226960_17226962dup	NCBI36
NG_012340.1:g.31293_31295dup , LRG_316:g.31293_31295dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463045.3:c.253-13_253-11dup	ENSP00000481376.2:n.253-13_253-11dup
ENST00000491274.6:c.382-13_382-11dup	ENSP00000480482.2:n.382-13_382-11dup
ENST00000375499.8:c.424-13_424-11dup MANE Select	ENSP00000364649.3:n.424-13_424-11dup
ENST00000375499.7:c.424-13_424-11dup	ENSP00000364649.3:n.424-13_424-11dup
ENST00000463045.2:c.253-13_253-11dup	ENSP00000481376.1:n.253-13_253-11dup
ENST00000475506.1:n.341-13_341-11dup
ENST00000485515.5:n.358-13_358-11dup
ENST00000491274.5:c.382-13_382-11dup	ENSP00000480482.1:n.382-13_382-11dup
NM_003000.2:c.424-13_424-11dup , LRG_316t1:c.424-13_424-11dup	NP_002991.2:n.424-13_424-11dup
NM_003000.3:c.424-13_424-11dup MANE Select	NP_002991.2:n.424-13_424-11dup