Canonical Allele Identifier: CA645369585

Gene: SDHD

Linked Data

• ClinVar Variation Id: 428938
• ClinVar RCV Id: RCV002231154
• dbSNP Id: rs1131691064
• MyVariant Identifiers: chr11:g.111965566del (hg19) ; chr11:g.112094842del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094842del , CM000673.2:g.112094842del	GRCh38
NC_000011.9:g.111965566del , CM000673.1:g.111965566del	GRCh37
NC_000011.8:g.111470776del	NCBI36
NG_012337.2:g.12996del
NG_012337.3:g.12996del

Transcript Alleles

HGVS	Amino-acid change
ENST00000530923.6:c.*91del	ENSP00000432946.2:n.*91del
ENST00000534010.2:c.314+5831del	ENSP00000433202.2:n.314+5831del
ENST00000375549.8:c.352del MANE Select	ENSP00000364699.3:p.Asp118MetfsTer17
ENST00000528021.6:c.314+5831del	ENSP00000432465.1:n.314+5831del
ENST00000375549.7:c.352del	ENSP00000364699.3:p.Asp118MetfsTer17
ENST00000525291.5:c.235del	ENSP00000436669.1:p.Asp79MetfsTer17
ENST00000525987.5:n.319+5831del
ENST00000526592.5:c.*50del	ENSP00000432005.1:n.*50del
ENST00000528021.5:c.314+5831del	ENSP00000432465.1:n.314+5831del
ENST00000528048.5:c.207del	ENSP00000436217.1:p.Met70CysfsTer?
ENST00000528182.5:c.345del	ENSP00000435475.1:p.Met116CysfsTer?
ENST00000530923.5:c.396del
ENST00000531744.5:c.314+5831del	ENSP00000456957.1:n.314+5831del
ENST00000532699.1:c.314+5831del	ENSP00000456434.1:n.314+5831del
ENST00000534010.1:c.145+5831del
NM_001276503.1:c.207del	NP_001263432.1:p.Met70CysfsTer?
NM_001276504.1:c.235del	NP_001263433.1:p.Asp79MetfsTer17
NM_001276506.1:c.*50del	NP_001263435.1:n.*50del
NM_003002.3:c.352del	NP_002993.1:p.Asp118MetfsTer17
NR_077060.1:n.490del
NM_003002.4:c.352del MANE Select	NP_002993.1:p.Asp118MetfsTer17
NM_001276503.2:c.207del	NP_001263432.1:p.Met70CysfsTer?
NM_001276504.2:c.235del	NP_001263433.1:p.Asp79MetfsTer17
NM_001276506.2:c.*50del	NP_001263435.1:n.*50del
NR_077060.2:n.441del