Canonical Allele Identifier: CA070894

Gene: SDHD

Linked Data

• dbSNP Id: rs780035636
• ExAC: 11:111965716 AAG / A
• gnomAD v2: 11-111965716-AAG-A
• gnomAD v4: 11-112094992-AAG-A
• MyVariant Identifiers: chr11:g.111965717_111965718del (hg19) ; chr11:g.112094993_112094994del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094994_112094995del , CM000673.2:g.112094994_112094995del	GRCh38
NC_000011.9:g.111965718_111965719del , CM000673.1:g.111965718_111965719del	GRCh37
NC_000011.8:g.111470928_111470929del	NCBI36
NG_012337.2:g.13148_13149del
NG_012337.3:g.13148_13149del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.*243_*244del	ENSP00000432946.2:n.*243_*244del
ENST00000534010.2:c.314+5983_314+5984del	ENSP00000433202.2:n.314+5983_314+5984del
ENST00000375549.8:c.*24_*25del MANE Select	ENSP00000364699.3:n.*24_*25del
ENST00000528021.6:c.314+5983_314+5984del	ENSP00000432465.1:n.314+5983_314+5984del
ENST00000375549.7:c.*24_*25del	ENSP00000364699.3:n.*24_*25del
ENST00000525291.5:c.*24_*25del	ENSP00000436669.1:n.*24_*25del
ENST00000525987.5:n.319+5983_319+5984del
ENST00000526592.5:c.*202_*203del	ENSP00000432005.1:n.*202_*203del
ENST00000528021.5:c.314+5983_314+5984del	ENSP00000432465.1:n.314+5983_314+5984del
ENST00000528048.5:c.*101_*102del	ENSP00000436217.1:n.*101_*102del
ENST00000528182.5:c.*101_*102del	ENSP00000435475.1:n.*101_*102del
ENST00000530923.5:c.548_549del
ENST00000531744.5:c.314+5983_314+5984del	ENSP00000456957.1:n.314+5983_314+5984del
ENST00000532699.1:c.314+5983_314+5984del	ENSP00000456434.1:n.314+5983_314+5984del
ENST00000534010.1:c.145+5983_145+5984del
NM_001276503.1:c.*101_*102del	NP_001263432.1:n.*101_*102del
NM_001276504.1:c.*24_*25del	NP_001263433.1:n.*24_*25del
NM_001276506.1:c.*202_*203del	NP_001263435.1:n.*202_*203del
NM_003002.3:c.*24_*25del	NP_002993.1:n.*24_*25del
NR_077060.1:n.642_643del
NM_003002.4:c.*24_*25del MANE Select	NP_002993.1:n.*24_*25del
NM_001276503.2:c.*101_*102del	NP_001263432.1:n.*101_*102del
NM_001276504.2:c.*24_*25del	NP_001263433.1:n.*24_*25del
NM_001276506.2:c.*202_*203del	NP_001263435.1:n.*202_*203del
NR_077060.2:n.593_594del