Canonical Allele Identifier: CA2740090520
Gene: SDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2949287
ClinVar RCV Id: RCV003802013

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022620_17022623del , CM000663.2:g.17022620_17022623del GRCh38
NC_000001.10:g.17349115_17349118del , CM000663.1:g.17349115_17349118del GRCh37
NC_000001.9:g.17221702_17221705del NCBI36
NG_012340.1:g.36549_36552del , LRG_316:g.36549_36552del

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.580_583del ENSP00000481376.2:p.Arg194ProfsTer6
ENST00000491274.6:c.709_712del ENSP00000480482.2:p.Arg237ProfsTer6
ENST00000375499.8:c.751_754del MANE Select ENSP00000364649.3:p.Arg251ProfsTer6
ENST00000375499.7:c.751_754del ENSP00000364649.3:p.Arg251ProfsTer6
ENST00000475049.5:n.176_179del
ENST00000485092.5:n.415_418del
ENST00000485515.5:n.685_688del
NM_003000.2:c.751_754del , LRG_316t1:c.751_754del NP_002991.2:p.Arg251ProfsTer6
NM_003000.3:c.751_754del MANE Select NP_002991.2:p.Arg251ProfsTer6