Canonical Allele Identifier: CA016733
Gene: SDHD HGNC NCBI

Linked Data

ClinVar Variation Id: 6917
ClinVar RCV Id: RCV000007326 RCV000482313 RCV000492772 RCV000505302 RCV002512872
dbSNP Id: rs587776649
ExAC: 11:111958584 TG / T
gnomAD v4: 11-112087860-TG-T
MyVariant Identifiers: chr11:g.111958585del (hg19) chr11:g.112087861del (hg38)
PubMed: PMID:17667967 PMID:17804857 PMID:19075037 PMID:20418362 PMID:25741136
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112087861del , CM000673.2:g.112087861del GRCh38
NC_000011.9:g.111958585del , CM000673.1:g.111958585del GRCh37
NC_000011.8:g.111463795del NCBI36
NG_012337.2:g.6015del
NG_033145.1:g.3938del
NG_012337.3:g.6015del

Transcript Alleles

HGVS Amino-acid change
ENST00000530923.6:c.57del ENSP00000432946.2:p.Leu20CysfsTer?
ENST00000534010.2:c.57del ENSP00000433202.2:p.Leu20CysfsTer?
ENST00000375549.8:c.57del MANE Select ENSP00000364699.3:p.Leu20CysfsTer?
ENST00000528021.6:c.57del ENSP00000432465.1:p.Leu20CysfsTer?
ENST00000640554.1:c.57del ENSP00000491141.1:p.Leu20CysfsTer?
ENST00000375549.7:c.57del ENSP00000364699.3:p.Leu20CysfsTer?
ENST00000525291.5:c.52+902del ENSP00000436669.1:n.52+902del
ENST00000525987.5:n.62del
ENST00000526592.5:c.57del ENSP00000432005.1:p.Leu20CysfsTer?
ENST00000528021.5:c.57del ENSP00000432465.1:p.Leu20CysfsTer?
ENST00000528048.5:c.57del ENSP00000436217.1:p.Leu20CysfsTer?
ENST00000528182.5:c.57del ENSP00000435475.1:p.Leu20CysfsTer?
ENST00000530923.5:c.47del
ENST00000531744.5:c.57del ENSP00000456957.1:p.Leu20CysfsTer?
ENST00000532699.1:c.57del ENSP00000456434.1:p.Leu20CysfsTer?
ENST00000614349.4:c.57del ENSP00000480666.1:p.Leu20CysfsTer?
NM_001276503.1:c.57del NP_001263432.1:p.Leu20CysfsTer?
NM_001276504.1:c.52+902del NP_001263433.1:n.52+902del
NM_001276506.1:c.57del NP_001263435.1:p.Leu20CysfsTer?
NM_003002.3:c.57del NP_002993.1:p.Leu20CysfsTer?
NR_077060.1:n.141del
NM_003002.4:c.57del MANE Select NP_002993.1:p.Leu20CysfsTer?
NM_001276503.2:c.57del NP_001263432.1:p.Leu20CysfsTer?
NM_001276504.2:c.52+902del NP_001263433.1:n.52+902del
NM_001276506.2:c.57del NP_001263435.1:p.Leu20CysfsTer?
NR_077060.2:n.92del
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