Canonical Allele Identifier: CA601746159

Gene: SDHD

Linked Data

• dbSNP Id: rs1379871189
• gnomAD v2: 11-111965807-CCTT-C
• gnomAD v3: 11-112095083-CCTT-C
• gnomAD v4: 11-112095083-CCTT-C
• MyVariant Identifiers: chr11:g.111965808_111965810del (hg19) ; chr11:g.112095084_112095086del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112095089_112095091del , CM000673.2:g.112095089_112095091del	GRCh38
NC_000011.9:g.111965813_111965815del , CM000673.1:g.111965813_111965815del	GRCh37
NC_000011.8:g.111471023_111471025del	NCBI36
NG_012337.2:g.13243_13245del
NG_012337.3:g.13243_13245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*338_*340del	ENSP00000432946.2:n.*338_*340del
ENST00000534010.2:c.314+6078_314+6080del	ENSP00000433202.2:n.314+6078_314+6080del
ENST00000375549.8:c.*119_*121del MANE Select	ENSP00000364699.3:n.*119_*121del
ENST00000528021.6:c.314+6078_314+6080del	ENSP00000432465.1:n.314+6078_314+6080del
ENST00000375549.7:c.*119_*121del	ENSP00000364699.3:n.*119_*121del
ENST00000525291.5:c.*119_*121del	ENSP00000436669.1:n.*119_*121del
ENST00000525987.5:n.319+6078_319+6080del
ENST00000526592.5:c.*297_*299del	ENSP00000432005.1:n.*297_*299del
ENST00000528021.5:c.314+6078_314+6080del	ENSP00000432465.1:n.314+6078_314+6080del
ENST00000528048.5:c.*196_*198del	ENSP00000436217.1:n.*196_*198del
ENST00000528182.5:c.*196_*198del	ENSP00000435475.1:n.*196_*198del
ENST00000530923.5:c.643_645del
ENST00000531744.5:c.314+6078_314+6080del	ENSP00000456957.1:n.314+6078_314+6080del
ENST00000532699.1:c.314+6078_314+6080del	ENSP00000456434.1:n.314+6078_314+6080del
ENST00000534010.1:c.145+6078_145+6080del
NM_001276503.1:c.*196_*198del	NP_001263432.1:n.*196_*198del
NM_001276504.1:c.*119_*121del	NP_001263433.1:n.*119_*121del
NM_001276506.1:c.*297_*299del	NP_001263435.1:n.*297_*299del
NM_003002.3:c.*119_*121del	NP_002993.1:n.*119_*121del
NR_077060.1:n.737_739del
NM_003002.4:c.*119_*121del MANE Select	NP_002993.1:n.*119_*121del
NM_001276503.2:c.*196_*198del	NP_001263432.1:n.*196_*198del
NM_001276504.2:c.*119_*121del	NP_001263433.1:n.*119_*121del
NM_001276506.2:c.*297_*299del	NP_001263435.1:n.*297_*299del
NR_077060.2:n.688_690del