Canonical Allele Identifier: CA228555245

Gene: SDHD

Linked Data

• dbSNP Id: rs916657122
• gnomAD v3: 11-112094437-AAAAC-A
• gnomAD v4: 11-112094437-AAAAC-A
• MyVariant Identifiers: chr11:g.111965162_111965165del (hg19) ; chr11:g.112094438_112094441del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094440_112094443del , CM000673.2:g.112094440_112094443del	GRCh38
NC_000011.9:g.111965164_111965167del , CM000673.1:g.111965164_111965167del	GRCh37
NC_000011.8:g.111470374_111470377del	NCBI36
NG_012337.2:g.12594_12597del
NG_012337.3:g.12594_12597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*54-365_*54-362del	ENSP00000432946.2:n.*54-365_*54-362del
ENST00000534010.2:c.314+5429_314+5432del	ENSP00000433202.2:n.314+5429_314+5432del
ENST00000375549.8:c.315-365_315-362del MANE Select	ENSP00000364699.3:n.315-365_315-362del
ENST00000528021.6:c.314+5429_314+5432del	ENSP00000432465.1:n.314+5429_314+5432del
ENST00000375549.7:c.315-365_315-362del	ENSP00000364699.3:n.315-365_315-362del
ENST00000525291.5:c.198-365_198-362del	ENSP00000436669.1:n.198-365_198-362del
ENST00000525987.5:n.319+5429_319+5432del
ENST00000526592.5:c.*13-365_*13-362del	ENSP00000432005.1:n.*13-365_*13-362del
ENST00000528021.5:c.314+5429_314+5432del	ENSP00000432465.1:n.314+5429_314+5432del
ENST00000528048.5:c.170-365_170-362del	ENSP00000436217.1:n.170-365_170-362del
ENST00000528182.5:c.308-365_308-362del	ENSP00000435475.1:n.308-365_308-362del
ENST00000530923.5:c.359-365_359-362del
ENST00000531744.5:c.314+5429_314+5432del	ENSP00000456957.1:n.314+5429_314+5432del
ENST00000532699.1:c.314+5429_314+5432del	ENSP00000456434.1:n.314+5429_314+5432del
ENST00000534010.1:c.145+5429_145+5432del
NM_001276503.1:c.170-365_170-362del	NP_001263432.1:n.170-365_170-362del
NM_001276504.1:c.198-365_198-362del	NP_001263433.1:n.198-365_198-362del
NM_001276506.1:c.*13-365_*13-362del	NP_001263435.1:n.*13-365_*13-362del
NM_003002.3:c.315-365_315-362del	NP_002993.1:n.315-365_315-362del
NR_077060.1:n.453-365_453-362del
NM_003002.4:c.315-365_315-362del MANE Select	NP_002993.1:n.315-365_315-362del
NM_001276503.2:c.170-365_170-362del	NP_001263432.1:n.170-365_170-362del
NM_001276504.2:c.198-365_198-362del	NP_001263433.1:n.198-365_198-362del
NM_001276506.2:c.*13-365_*13-362del	NP_001263435.1:n.*13-365_*13-362del
NR_077060.2:n.404-365_404-362del