Canonical Allele Identifier: CA658655556
Gene: SDHB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17022625_17022628dup , CM000663.2:g.17022625_17022628dup GRCh38
NC_000001.10:g.17349120_17349123dup , CM000663.1:g.17349120_17349123dup GRCh37
NC_000001.9:g.17221707_17221710dup NCBI36
NG_012340.1:g.36543_36546dup , LRG_316:g.36543_36546dup

Transcript Alleles

HGVS Amino-acid change
ENST00000463045.3:c.574_577dup ENSP00000481376.2:p.Thr193MetfsTer7
ENST00000491274.6:c.703_706dup ENSP00000480482.2:p.Thr236MetfsTer7
ENST00000375499.8:c.745_748dup MANE Select ENSP00000364649.3:p.Thr250MetfsTer7
ENST00000375499.7:c.745_748dup ENSP00000364649.3:p.Thr250MetfsTer7
ENST00000475049.5:n.170_173dup
ENST00000485092.5:n.409_412dup
ENST00000485515.5:n.679_682dup
NM_003000.2:c.745_748dup , LRG_316t1:c.745_748dup NP_002991.2:p.Thr250MetfsTer7
NM_003000.3:c.745_748dup MANE Select NP_002991.2:p.Thr250MetfsTer7