Canonical Allele Identifier: CA134779
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 44644
ClinVar RCV Id: RCV002054677 RCV002257376 RCV003103724 RCV003514307
dbSNP Id: rs34261028
ExAC: 1:17354373 G / GGAA
gnomAD v2: 1-17354373-G-GGAA
gnomAD v3: 1-17027878-G-GGAA
gnomAD v4: 1-17027878-G-GGAA
MyVariant Identifiers: chr1:g.17354374_17354376dupGAA (hg19) chr1:g.17354385_17354386insGAA (hg19) chr1:g.17354382_17354383insGAA (hg19) chr1:g.17354379_17354380insGAA (hg19) chr1:g.17354373_17354374insGAA (hg19) chr1:g.17027879_17027881dupGAA (hg38) chr1:g.17027887_17027888insGAA (hg38) chr1:g.17027878_17027879insGAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17027900_17027902dup , CM000663.2:g.17027900_17027902dup GRCh38
NC_000001.10:g.17354395_17354397dup , CM000663.1:g.17354395_17354397dup GRCh37
NC_000001.9:g.17226982_17226984dup NCBI36
NG_012340.1:g.31290_31292dup , LRG_316:g.31290_31292dup

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.253-16_253-14dup ENSP00000481376.2:n.253-16_253-14dup
ENST00000491274.6:c.382-16_382-14dup ENSP00000480482.2:n.382-16_382-14dup
ENST00000375499.8:c.424-16_424-14dup MANE Select ENSP00000364649.3:n.424-16_424-14dup
ENST00000375499.7:c.424-16_424-14dup ENSP00000364649.3:n.424-16_424-14dup
ENST00000463045.2:c.253-16_253-14dup ENSP00000481376.1:n.253-16_253-14dup
ENST00000475506.1:n.341-16_341-14dup
ENST00000485515.5:n.358-16_358-14dup
ENST00000491274.5:c.382-16_382-14dup ENSP00000480482.1:n.382-16_382-14dup
NM_003000.2:c.424-16_424-14dup , LRG_316t1:c.424-16_424-14dup NP_002991.2:n.424-16_424-14dup
NM_003000.3:c.424-16_424-14dup MANE Select NP_002991.2:n.424-16_424-14dup
Search 100 bp 5'
Search 100 bp 3'