Canonical Allele Identifier: CA16613229
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 412505
dbSNP Id: rs1060503773

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094884del , CM000673.2:g.112094884del GRCh38
NC_000011.9:g.111965608del , CM000673.1:g.111965608del GRCh37
NC_000011.8:g.111470818del NCBI36
NG_012337.2:g.13038del
NG_012337.3:g.13038del

Transcript Alleles

HGVS Amino-acid change
ENST00000530923.6:c.*133del ENSP00000432946.2:n.*133del
ENST00000534010.2:c.314+5873del ENSP00000433202.2:n.314+5873del
ENST00000375549.8:c.394del MANE Select ENSP00000364699.3:p.Ser132GlnfsTer3
ENST00000528021.6:c.314+5873del ENSP00000432465.1:n.314+5873del
ENST00000375549.7:c.394del ENSP00000364699.3:p.Ser132GlnfsTer3
ENST00000525291.5:c.277del ENSP00000436669.1:p.Ser93GlnfsTer3
ENST00000525987.5:n.319+5873del
ENST00000526592.5:c.*92del ENSP00000432005.1:n.*92del
ENST00000528021.5:c.314+5873del ENSP00000432465.1:n.314+5873del
ENST00000528048.5:c.249del ENSP00000436217.1:p.Gln84SerfsTer?
ENST00000528182.5:c.387del ENSP00000435475.1:p.Gln130SerfsTer?
ENST00000530923.5:c.438del
ENST00000531744.5:c.314+5873del ENSP00000456957.1:n.314+5873del
ENST00000532699.1:c.314+5873del ENSP00000456434.1:n.314+5873del
ENST00000534010.1:c.145+5873del
NM_001276503.1:c.249del NP_001263432.1:p.Gln84SerfsTer?
NM_001276504.1:c.277del NP_001263433.1:p.Ser93GlnfsTer3
NM_001276506.1:c.*92del NP_001263435.1:n.*92del
NM_003002.3:c.394del NP_002993.1:p.Ser132GlnfsTer3
NR_077060.1:n.532del
NM_003002.4:c.394del MANE Select NP_002993.1:p.Ser132GlnfsTer3
NM_001276503.2:c.249del NP_001263432.1:p.Gln84SerfsTer?
NM_001276504.2:c.277del NP_001263433.1:p.Ser93GlnfsTer3
NM_001276506.2:c.*92del NP_001263435.1:n.*92del
NR_077060.2:n.483del