Canonical Allele Identifier: CA671750718

Gene: SDHD

Linked Data

• dbSNP Id: rs1394042836
• gnomAD v3: 11-112095280-AAG-A
• gnomAD v4: 11-112095280-AAG-A
• MyVariant Identifiers: chr11:g.111966005_111966006del (hg19) ; chr11:g.112095281_112095282del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112095284_112095285del , CM000673.2:g.112095284_112095285del	GRCh38
NC_000011.9:g.111966008_111966009del , CM000673.1:g.111966008_111966009del	GRCh37
NC_000011.8:g.111471218_111471219del	NCBI36
NG_012337.2:g.13438_13439del
NG_012337.3:g.13438_13439del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534010.2:c.314+6273_314+6274del	ENSP00000433202.2:n.314+6273_314+6274del
ENST00000375549.8:c.*314_*315del MANE Select	ENSP00000364699.3:n.*314_*315del
ENST00000528021.6:c.314+6273_314+6274del	ENSP00000432465.1:n.314+6273_314+6274del
ENST00000375549.7:c.*314_*315del	ENSP00000364699.3:n.*314_*315del
ENST00000525291.5:c.*314_*315del	ENSP00000436669.1:n.*314_*315del
ENST00000525987.5:n.319+6273_319+6274del
ENST00000528021.5:c.314+6273_314+6274del	ENSP00000432465.1:n.314+6273_314+6274del
ENST00000528048.5:c.*391_*392del	ENSP00000436217.1:n.*391_*392del
ENST00000531744.5:c.314+6273_314+6274del	ENSP00000456957.1:n.314+6273_314+6274del
ENST00000532699.1:c.314+6273_314+6274del	ENSP00000456434.1:n.314+6273_314+6274del
ENST00000534010.1:c.145+6273_145+6274del
NM_001276503.1:c.*391_*392del	NP_001263432.1:n.*391_*392del
NM_001276504.1:c.*314_*315del	NP_001263433.1:n.*314_*315del
NM_001276506.1:c.*492_*493del	NP_001263435.1:n.*492_*493del
NM_003002.3:c.*314_*315del	NP_002993.1:n.*314_*315del
NR_077060.1:n.932_933del
NM_003002.4:c.*314_*315del MANE Select	NP_002993.1:n.*314_*315del
NM_001276503.2:c.*391_*392del	NP_001263432.1:n.*391_*392del
NM_001276504.2:c.*314_*315del	NP_001263433.1:n.*314_*315del
NM_001276506.2:c.*492_*493del	NP_001263435.1:n.*492_*493del
NR_077060.2:n.883_884del