Canonical Allele Identifier: CA2740090851
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 2950903
ClinVar RCV Id: RCV003802165

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094842_112094843delinsAT , CM000673.2:g.112094842_112094843delinsAT GRCh38
NC_000011.9:g.111965566_111965567delinsAT , CM000673.1:g.111965566_111965567delinsAT GRCh37
NC_000011.8:g.111470776_111470777delinsAT NCBI36
NG_012337.2:g.12996_12997delinsAT
NG_012337.3:g.12996_12997delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000530923.6:c.*91_*92delinsAT ENSP00000432946.2:n.*91_*92delinsAT
ENST00000534010.2:c.314+5831_314+5832delinsAT ENSP00000433202.2:n.314+5831_314+5832deli...
ENST00000375549.8:c.352_353delinsAT MANE Select ENSP00000364699.3:p.Asp118Ile
ENST00000528021.6:c.314+5831_314+5832delinsAT ENSP00000432465.1:n.314+5831_314+5832deli...
ENST00000375549.7:c.352_353delinsAT ENSP00000364699.3:p.Asp118Ile
ENST00000525291.5:c.235_236delinsAT ENSP00000436669.1:p.Asp79Ile
ENST00000525987.5:n.319+5831_319+5832delinsAT
ENST00000526592.5:c.*50_*51delinsAT ENSP00000432005.1:n.*50_*51delinsAT
ENST00000528021.5:c.314+5831_314+5832delinsAT ENSP00000432465.1:n.314+5831_314+5832deli...
ENST00000528048.5:c.207_208delinsAT ENSP00000436217.1:p.Met70Leu
ENST00000528182.5:c.345_346delinsAT ENSP00000435475.1:p.Met116Leu
ENST00000530923.5:c.396_397delinsAT
ENST00000531744.5:c.314+5831_314+5832delinsAT ENSP00000456957.1:n.314+5831_314+5832deli...
ENST00000532699.1:c.314+5831_314+5832delinsAT ENSP00000456434.1:n.314+5831_314+5832deli...
ENST00000534010.1:c.145+5831_145+5832delinsAT
NM_001276503.1:c.207_208delinsAT NP_001263432.1:p.Met70Leu
NM_001276504.1:c.235_236delinsAT NP_001263433.1:p.Asp79Ile
NM_001276506.1:c.*50_*51delinsAT NP_001263435.1:n.*50_*51delinsAT
NM_003002.3:c.352_353delinsAT NP_002993.1:p.Asp118Ile
NR_077060.1:n.490_491delinsAT
NM_003002.4:c.352_353delinsAT MANE Select NP_002993.1:p.Asp118Ile
NM_001276503.2:c.207_208delinsAT NP_001263432.1:p.Met70Leu
NM_001276504.2:c.235_236delinsAT NP_001263433.1:p.Asp79Ile
NM_001276506.2:c.*50_*51delinsAT NP_001263435.1:n.*50_*51delinsAT
NR_077060.2:n.441_442delinsAT