Canonical Allele Identifier: CA228555235

Gene: SDHD

Linked Data

• dbSNP Id: rs575947347
• gnomAD v2: 11-111965121-CAATAAATAAATA-C
• gnomAD v3: 11-112094397-CAATAAATAAATA-C
• gnomAD v4: 11-112094397-CAATAAATAAATA-C
• MyVariant Identifiers: chr11:g.111965122_111965133del (hg19) ; chr11:g.112094398_112094409del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094414_112094425del , CM000673.2:g.112094414_112094425del	GRCh38
NC_000011.9:g.111965138_111965149del , CM000673.1:g.111965138_111965149del	GRCh37
NC_000011.8:g.111470348_111470359del	NCBI36
NG_012337.2:g.12568_12579del
NG_012337.3:g.12568_12579del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*54-391_*54-380del	ENSP00000432946.2:n.*54-391_*54-380del
ENST00000534010.2:c.314+5403_314+5414del	ENSP00000433202.2:n.314+5403_314+5414del
ENST00000375549.8:c.315-391_315-380del MANE Select	ENSP00000364699.3:n.315-391_315-380del
ENST00000528021.6:c.314+5403_314+5414del	ENSP00000432465.1:n.314+5403_314+5414del
ENST00000375549.7:c.315-391_315-380del	ENSP00000364699.3:n.315-391_315-380del
ENST00000525291.5:c.198-391_198-380del	ENSP00000436669.1:n.198-391_198-380del
ENST00000525987.5:n.319+5403_319+5414del
ENST00000526592.5:c.*13-391_*13-380del	ENSP00000432005.1:n.*13-391_*13-380del
ENST00000528021.5:c.314+5403_314+5414del	ENSP00000432465.1:n.314+5403_314+5414del
ENST00000528048.5:c.170-391_170-380del	ENSP00000436217.1:n.170-391_170-380del
ENST00000528182.5:c.308-391_308-380del	ENSP00000435475.1:n.308-391_308-380del
ENST00000530923.5:c.359-391_359-380del
ENST00000531744.5:c.314+5403_314+5414del	ENSP00000456957.1:n.314+5403_314+5414del
ENST00000532699.1:c.314+5403_314+5414del	ENSP00000456434.1:n.314+5403_314+5414del
ENST00000534010.1:c.145+5403_145+5414del
NM_001276503.1:c.170-391_170-380del	NP_001263432.1:n.170-391_170-380del
NM_001276504.1:c.198-391_198-380del	NP_001263433.1:n.198-391_198-380del
NM_001276506.1:c.*13-391_*13-380del	NP_001263435.1:n.*13-391_*13-380del
NM_003002.3:c.315-391_315-380del	NP_002993.1:n.315-391_315-380del
NR_077060.1:n.453-391_453-380del
NM_003002.4:c.315-391_315-380del MANE Select	NP_002993.1:n.315-391_315-380del
NM_001276503.2:c.170-391_170-380del	NP_001263432.1:n.170-391_170-380del
NM_001276504.2:c.198-391_198-380del	NP_001263433.1:n.198-391_198-380del
NM_001276506.2:c.*13-391_*13-380del	NP_001263435.1:n.*13-391_*13-380del
NR_077060.2:n.404-391_404-380del