Canonical Allele Identifier: CA2695215344
Gene: SDHD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094969_112094970insGT , CM000673.2:g.112094969_112094970insGT GRCh38
NC_000011.9:g.111965693_111965694insGT , CM000673.1:g.111965693_111965694insGT GRCh37
NC_000011.8:g.111470903_111470904insGT NCBI36
NG_012337.2:g.13123_13124insGT
NG_012337.3:g.13123_13124insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000530923.6:c.*218_*219insGT ENSP00000432946.2:n.*218_*219insGT
ENST00000534010.2:c.314+5958_314+5959insGT ENSP00000433202.2:n.314+5958_314+5959insGT
ENST00000375549.8:c.479_480insGT MANE Select ENSP00000364699.3:p.Ter160TrpextTer9
ENST00000528021.6:c.314+5958_314+5959insGT ENSP00000432465.1:n.314+5958_314+5959insGT
ENST00000375549.7:c.479_480insGT ENSP00000364699.3:p.Ter160TrpextTer9
ENST00000525291.5:c.362_363insGT ENSP00000436669.1:p.Ter121TrpextTer9
ENST00000525987.5:n.319+5958_319+5959insGT
ENST00000526592.5:c.*177_*178insGT ENSP00000432005.1:n.*177_*178insGT
ENST00000528021.5:c.314+5958_314+5959insGT ENSP00000432465.1:n.314+5958_314+5959insGT
ENST00000528048.5:c.*76_*77insGT ENSP00000436217.1:n.*76_*77insGT
ENST00000528182.5:c.*76_*77insGT ENSP00000435475.1:n.*76_*77insGT
ENST00000530923.5:c.523_524insGT
ENST00000531744.5:c.314+5958_314+5959insGT ENSP00000456957.1:n.314+5958_314+5959insGT
ENST00000532699.1:c.314+5958_314+5959insGT ENSP00000456434.1:n.314+5958_314+5959insGT
ENST00000534010.1:c.145+5958_145+5959insGT
NM_001276503.1:c.*76_*77insGT NP_001263432.1:n.*76_*77insGT
NM_001276504.1:c.362_363insGT NP_001263433.1:p.Ter121TrpextTer9
NM_001276506.1:c.*177_*178insGT NP_001263435.1:n.*177_*178insGT
NM_003002.3:c.479_480insGT NP_002993.1:p.Ter160TrpextTer9
NR_077060.1:n.617_618insGT
NM_003002.4:c.479_480insGT MANE Select NP_002993.1:p.Ter160TrpextTer9
NM_001276503.2:c.*76_*77insGT NP_001263432.1:n.*76_*77insGT
NM_001276504.2:c.362_363insGT NP_001263433.1:p.Ter121TrpextTer9
NM_001276506.2:c.*177_*178insGT NP_001263435.1:n.*177_*178insGT
NR_077060.2:n.568_569insGT