Canonical Allele Identifier: CA915947749

Gene: SDHD

Linked Data

• ClinVar Variation Id: 823334
• ClinVar RCV Id: RCV001019494
• dbSNP Id: rs1592786159

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094816_112094817del , CM000673.2:g.112094816_112094817del	GRCh38
NC_000011.9:g.111965540_111965541del , CM000673.1:g.111965540_111965541del	GRCh37
NC_000011.8:g.111470750_111470751del	NCBI36
NG_012337.2:g.12970_12971del
NG_012337.3:g.12970_12971del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*65_*66del	ENSP00000432946.2:n.*65_*66del
ENST00000534010.2:c.314+5805_314+5806del	ENSP00000433202.2:n.314+5805_314+5806del
ENST00000375549.8:c.326_327del MANE Select	ENSP00000364699.3:p.Gln109ArgfsTer4
ENST00000528021.6:c.314+5805_314+5806del	ENSP00000432465.1:n.314+5805_314+5806del
ENST00000375549.7:c.326_327del	ENSP00000364699.3:p.Gln109ArgfsTer4
ENST00000525291.5:c.209_210del	ENSP00000436669.1:p.Gln70ArgfsTer4
ENST00000525987.5:n.319+5805_319+5806del
ENST00000526592.5:c.*24_*25del	ENSP00000432005.1:n.*24_*25del
ENST00000528021.5:c.314+5805_314+5806del	ENSP00000432465.1:n.314+5805_314+5806del
ENST00000528048.5:c.181_182del	ENSP00000436217.1:p.Lys61ValfsTer?
ENST00000528182.5:c.319_320del	ENSP00000435475.1:p.Lys107ValfsTer?
ENST00000530923.5:c.370_371del
ENST00000531744.5:c.314+5805_314+5806del	ENSP00000456957.1:n.314+5805_314+5806del
ENST00000532699.1:c.314+5805_314+5806del	ENSP00000456434.1:n.314+5805_314+5806del
ENST00000534010.1:c.145+5805_145+5806del
NM_001276503.1:c.181_182del	NP_001263432.1:p.Lys61ValfsTer?
NM_001276504.1:c.209_210del	NP_001263433.1:p.Gln70ArgfsTer4
NM_001276506.1:c.*24_*25del	NP_001263435.1:n.*24_*25del
NM_003002.3:c.326_327del	NP_002993.1:p.Gln109ArgfsTer4
NR_077060.1:n.464_465del
NM_003002.4:c.326_327del MANE Select	NP_002993.1:p.Gln109ArgfsTer4
NM_001276503.2:c.181_182del	NP_001263432.1:p.Lys61ValfsTer?
NM_001276504.2:c.209_210del	NP_001263433.1:p.Gln70ArgfsTer4
NM_001276506.2:c.*24_*25del	NP_001263435.1:n.*24_*25del
NR_077060.2:n.415_416del