Canonical Allele Identifier: CA645509538
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 438442
ClinVar RCV Id: RCV000505320
dbSNP Id: rs1555187570

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112094805_112094970del , CM000673.2:g.112094805_112094970del GRCh38
NC_000011.9:g.111965529_111965694del , CM000673.1:g.111965529_111965694del GRCh37
NC_000011.8:g.111470739_111470904del NCBI36
NG_012337.2:g.12959_13124del
NG_012337.3:g.12959_13124del

Transcript Alleles

HGVS Amino-acid change
ENST00000530923.6:c.*54_*219del ENSP00000432946.2:n.*54_*219del
ENST00000534010.2:c.314+5794_314+5959del ENSP00000433202.2:n.314+5794_314+5959del
ENST00000375549.8:c.315_480del MANE Select ENSP00000364699.3:p.Trp105CysfsTer8
ENST00000528021.6:c.314+5794_314+5959del ENSP00000432465.1:n.314+5794_314+5959del
ENST00000375549.7:c.315_480del ENSP00000364699.3:p.Trp105CysfsTer8
ENST00000525291.5:c.198_363del ENSP00000436669.1:p.Trp66CysfsTer8
ENST00000525987.5:n.319+5794_319+5959del
ENST00000526592.5:c.*13_*178del ENSP00000432005.1:n.*13_*178del
ENST00000528021.5:c.314+5794_314+5959del ENSP00000432465.1:n.314+5794_314+5959del
ENST00000528048.5:c.170_*77del ENSP00000436217.1:n.[c.170_*77del;Trp57Se...
ENST00000528182.5:c.308_*77del ENSP00000435475.1:n.[c.308_*77del;Gly103A...
ENST00000530923.5:c.359_524del
ENST00000531744.5:c.314+5794_314+5959del ENSP00000456957.1:n.314+5794_314+5959del
ENST00000532699.1:c.314+5794_314+5959del ENSP00000456434.1:n.314+5794_314+5959del
ENST00000534010.1:c.145+5794_145+5959del
NM_001276503.1:c.170_*77del NP_001263432.1:n.[c.170_*77del;Trp57Serfs...
NM_001276504.1:c.198_363del NP_001263433.1:p.Trp66CysfsTer8
NM_001276506.1:c.*13_*178del NP_001263435.1:n.*13_*178del
NM_003002.3:c.315_480del NP_002993.1:p.Trp105CysfsTer8
NR_077060.1:n.453_618del
NM_003002.4:c.315_480del MANE Select NP_002993.1:p.Trp105CysfsTer8
NM_001276503.2:c.170_*77del NP_001263432.1:n.[c.170_*77del;Trp57Serfs...
NM_001276504.2:c.198_363del NP_001263433.1:p.Trp66CysfsTer8
NM_001276506.2:c.*13_*178del NP_001263435.1:n.*13_*178del
NR_077060.2:n.404_569del