Canonical Allele Identifier: CA2553648559
Gene: SDHB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022680_17022681insGGATGGGCCGACGAATTTGTCGGGGTTCCACCAGA , CM000663.2:g.17022680_17022681insGGATGGGCCGACGAATTTGTCGGGGTTCCACCAGA GRCh38
NC_000001.10:g.17349175_17349176insGGATGGGCCGACGAATTTGTCGGGGTTCCACCAGA , CM000663.1:g.17349175_17349176insGGATGGGCCGACGAATTTGTCGGGGTTCCACCAGA GRCh37
NC_000001.9:g.17221762_17221763insGGATGGGCCGACGAATTTGTCGGGGTTCCACCAGA NCBI36
NG_012340.1:g.36490_36491insTCTGGTGGAACCCCGACAAATTCGTCGGCCCATCC , LRG_316:g.36490_36491insTCTGGTGGAACCCCGACAAATTCGTCGGCCCATCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000463045.3:c.521_522insTCTGGTGGAACCCCGACAAATTCGTCGGCCCATCC ENSP00000481376.2:p.Ala175LeufsTer28
ENST00000491274.6:c.650_651insTCTGGTGGAACCCCGACAAATTCGTCGGCCCATCC ENSP00000480482.2:p.Ala218LeufsTer28
ENST00000375499.8:c.692_693insTCTGGTGGAACCCCGACAAATTCGTCGGCCCATCC MANE Select ENSP00000364649.3:p.Ala232LeufsTer28
ENST00000375499.7:c.692_693insTCTGGTGGAACCCCGACAAATTCGTCGGCCCATCC ENSP00000364649.3:p.Ala232LeufsTer28
ENST00000475049.5:n.117_118insTCTGGTGGAACCCCGACAAATTCGTCGGCCCATCC
ENST00000485092.5:n.356_357insTCTGGTGGAACCCCGACAAATTCGTCGGCCCATCC
ENST00000485515.5:n.626_627insTCTGGTGGAACCCCGACAAATTCGTCGGCCCATCC
NM_003000.2:c.692_693insTCTGGTGGAACCCCGACAAATTCGTCGGCCCATCC , LRG_316t1:c.692_693insTCTGGTGGAACCCCGACAAATTCGTCGGCCCATCC NP_002991.2:p.Ala232LeufsTer28
NM_003000.3:c.692_693insTCTGGTGGAACCCCGACAAATTCGTCGGCCCATCC MANE Select NP_002991.2:p.Ala232LeufsTer28