Canonical Allele Identifier: CA2580083517

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1731167
• ClinVar RCV Id: RCV002452160 ; RCV003775621

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094831_112094832del , CM000673.2:g.112094831_112094832del	GRCh38
NC_000011.9:g.111965555_111965556del , CM000673.1:g.111965555_111965556del	GRCh37
NC_000011.8:g.111470765_111470766del	NCBI36
NG_012337.2:g.12985_12986del
NG_012337.3:g.12985_12986del

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*80_*81del	ENSP00000432946.2:n.*80_*81del
ENST00000534010.2:c.314+5820_314+5821del	ENSP00000433202.2:n.314+5820_314+5821del
ENST00000375549.8:c.341_342del MANE Select	ENSP00000364699.3:p.Tyr114CysfsTer?
ENST00000528021.6:c.314+5820_314+5821del	ENSP00000432465.1:n.314+5820_314+5821del
ENST00000375549.7:c.341_342del	ENSP00000364699.3:p.Tyr114CysfsTer?
ENST00000525291.5:c.224_225del	ENSP00000436669.1:p.Tyr75CysfsTer?
ENST00000525987.5:n.319+5820_319+5821del
ENST00000526592.5:c.*39_*40del	ENSP00000432005.1:n.*39_*40del
ENST00000528021.5:c.314+5820_314+5821del	ENSP00000432465.1:n.314+5820_314+5821del
ENST00000528048.5:c.196_197del	ENSP00000436217.1:p.Met66ValfsTer?
ENST00000528182.5:c.334_335del	ENSP00000435475.1:p.Met112ValfsTer?
ENST00000530923.5:c.385_386del
ENST00000531744.5:c.314+5820_314+5821del	ENSP00000456957.1:n.314+5820_314+5821del
ENST00000532699.1:c.314+5820_314+5821del	ENSP00000456434.1:n.314+5820_314+5821del
ENST00000534010.1:c.145+5820_145+5821del
NM_001276503.1:c.196_197del	NP_001263432.1:p.Met66ValfsTer?
NM_001276504.1:c.224_225del	NP_001263433.1:p.Tyr75CysfsTer?
NM_001276506.1:c.*39_*40del	NP_001263435.1:n.*39_*40del
NM_003002.3:c.341_342del	NP_002993.1:p.Tyr114CysfsTer?
NR_077060.1:n.479_480del
NM_003002.4:c.341_342del MANE Select	NP_002993.1:p.Tyr114CysfsTer?
NM_001276503.2:c.196_197del	NP_001263432.1:p.Met66ValfsTer?
NM_001276504.2:c.224_225del	NP_001263433.1:p.Tyr75CysfsTer?
NM_001276506.2:c.*39_*40del	NP_001263435.1:n.*39_*40del
NR_077060.2:n.430_431del