Canonical Allele Identifier: CA637817

Gene: SDHB

Linked Data

• ClinVar Variation Id: 258890
• ClinVar RCV Id: RCV000243274 ; RCV000307606 ; RCV000402739 ; RCV001517903 ; RCV001580091 ; RCV003514341
• dbSNP Id: rs34261028
• ExAC: 1:17354373 GGAAGAA / G
• gnomAD v2: 1-17354373-GGAAGAA-G
• gnomAD v3: 1-17027878-GGAAGAA-G
• gnomAD v4: 1-17027878-GGAAGAA-G
• MyVariant Identifiers: chr1:g.17354380_17354385del (hg19) ; chr1:g.17354377_17354382del (hg19) ; chr1:g.17354374_17354379del (hg19) ; chr1:g.17027882_17027887del (hg38) ; chr1:g.17027879_17027884del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17027897_17027902del , CM000663.2:g.17027897_17027902del	GRCh38
NC_000001.10:g.17354392_17354397del , CM000663.1:g.17354392_17354397del	GRCh37
NC_000001.9:g.17226979_17226984del	NCBI36
NG_012340.1:g.31287_31292del , LRG_316:g.31287_31292del

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.253-19_253-14del	ENSP00000481376.2:n.253-19_253-14del
ENST00000491274.6:c.382-19_382-14del	ENSP00000480482.2:n.382-19_382-14del
ENST00000375499.8:c.424-19_424-14del MANE Select	ENSP00000364649.3:n.424-19_424-14del
ENST00000375499.7:c.424-19_424-14del	ENSP00000364649.3:n.424-19_424-14del
ENST00000463045.2:c.253-19_253-14del	ENSP00000481376.1:n.253-19_253-14del
ENST00000475506.1:n.341-19_341-14del
ENST00000485515.5:n.358-19_358-14del
ENST00000491274.5:c.382-19_382-14del	ENSP00000480482.1:n.382-19_382-14del
NM_003000.2:c.424-19_424-14del , LRG_316t1:c.424-19_424-14del	NP_002991.2:n.424-19_424-14del
NM_003000.3:c.424-19_424-14del MANE Select	NP_002991.2:n.424-19_424-14del