Canonical Allele Identifier: CA2580083599

Gene: SDHD

Linked Data

• ClinVar Variation Id: 2032648
• ClinVar RCV Id: RCV002881330

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094964_112094965delinsTT , CM000673.2:g.112094964_112094965delinsTT	GRCh38
NC_000011.9:g.111965688_111965689delinsTT , CM000673.1:g.111965688_111965689delinsTT	GRCh37
NC_000011.8:g.111470898_111470899delinsTT	NCBI36
NG_012337.2:g.13118_13119delinsTT
NG_012337.3:g.13118_13119delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*213_*214delinsTT	ENSP00000432946.2:n.*213_*214delinsTT
ENST00000534010.2:c.314+5953_314+5954delinsTT	ENSP00000433202.2:n.314+5953_314+5954delinsTT
ENST00000375549.8:c.474_475delinsTT MANE Select	ENSP00000364699.3:p.Lys158_Leu159delinsAsnPhe
ENST00000528021.6:c.314+5953_314+5954delinsTT	ENSP00000432465.1:n.314+5953_314+5954delinsTT
ENST00000375549.7:c.474_475delinsTT	ENSP00000364699.3:p.Lys158_Leu159delinsAsnPhe
ENST00000525291.5:c.357_358delinsTT	ENSP00000436669.1:p.Lys119_Leu120delinsAsnPhe
ENST00000525987.5:n.319+5953_319+5954delinsTT
ENST00000526592.5:c.*172_*173delinsTT	ENSP00000432005.1:n.*172_*173delinsTT
ENST00000528021.5:c.314+5953_314+5954delinsTT	ENSP00000432465.1:n.314+5953_314+5954delinsTT
ENST00000528048.5:c.*71_*72delinsTT	ENSP00000436217.1:n.*71_*72delinsTT
ENST00000528182.5:c.*71_*72delinsTT	ENSP00000435475.1:n.*71_*72delinsTT
ENST00000530923.5:c.518_519delinsTT
ENST00000531744.5:c.314+5953_314+5954delinsTT	ENSP00000456957.1:n.314+5953_314+5954delinsTT
ENST00000532699.1:c.314+5953_314+5954delinsTT	ENSP00000456434.1:n.314+5953_314+5954delinsTT
ENST00000534010.1:c.145+5953_145+5954delinsTT
NM_001276503.1:c.*71_*72delinsTT	NP_001263432.1:n.*71_*72delinsTT
NM_001276504.1:c.357_358delinsTT	NP_001263433.1:p.Lys119_Leu120delinsAsnPhe
NM_001276506.1:c.*172_*173delinsTT	NP_001263435.1:n.*172_*173delinsTT
NM_003002.3:c.474_475delinsTT	NP_002993.1:p.Lys158_Leu159delinsAsnPhe
NR_077060.1:n.612_613delinsTT
NM_003002.4:c.474_475delinsTT MANE Select	NP_002993.1:p.Lys158_Leu159delinsAsnPhe
NM_001276503.2:c.*71_*72delinsTT	NP_001263432.1:n.*71_*72delinsTT
NM_001276504.2:c.357_358delinsTT	NP_001263433.1:p.Lys119_Leu120delinsAsnPhe
NM_001276506.2:c.*172_*173delinsTT	NP_001263435.1:n.*172_*173delinsTT
NR_077060.2:n.563_564delinsTT