Canonical Allele Identifier: CA015546

Gene: SDHB

Linked Data

• ClinVar Variation Id: 185342
• ClinVar RCV Id: RCV000164746 ; RCV000467539 ; RCV001002472 ; RCV001257497 ; RCV001294007 ; RCV001753560 ; RCV002498816 ; RCV003474863
• dbSNP Id: rs786202100
• gnomAD v4: 1-17044790-ATGAGG-A
• MyVariant Identifiers: chr1:g.17371286_17371290del (hg19) ; chr1:g.17044791_17044795del (hg38)
• PubMed: PMID:15328326 ; PMID:16304664 ; PMID:17652212 ; PMID:18382370 ; PMID:18551016 ; PMID:19258401 ; PMID:19454582 ; PMID:20208144 ; PMID:21934479 ; PMID:25130709

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17044792_17044796del , CM000663.2:g.17044792_17044796del	GRCh38
NC_000001.10:g.17371287_17371291del , CM000663.1:g.17371287_17371291del	GRCh37
NC_000001.9:g.17243874_17243878del	NCBI36
NG_012340.1:g.14376_14380del , LRG_316:g.14376_14380del

Transcript Alleles

HGVS	Amino-acid change
ENST00000463045.3:c.-6_-2del	ENSP00000481376.2:n.-6_-2del
ENST00000491274.6:c.124_128del	ENSP00000480482.2:p.Pro42TyrfsTer5
ENST00000375499.8:c.166_170del MANE Select	ENSP00000364649.3:p.Pro56TyrfsTer5
ENST00000375499.7:c.166_170del	ENSP00000364649.3:p.Pro56TyrfsTer5
ENST00000463045.2:c.-6_-2del	ENSP00000481376.1:n.-6_-2del
ENST00000466613.2:n.178_182del
ENST00000475506.1:n.83_87del
ENST00000485515.5:n.154_158del
ENST00000491274.5:c.124_128del	ENSP00000480482.1:p.Pro42TyrfsTer5
NM_003000.2:c.166_170del , LRG_316t1:c.166_170del	NP_002991.2:p.Pro56TyrfsTer5
NM_003000.3:c.166_170del MANE Select	NP_002991.2:p.Pro56TyrfsTer5