Canonical Allele Identifier: CA2613847266

Gene: SDHAF2

Linked Data

• gnomAD v4: 11-61446042-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446043_61446044del , CM000673.2:g.61446043_61446044del	GRCh38
NC_000011.9:g.61213515_61213516del , CM000673.1:g.61213515_61213516del	GRCh37
NC_000011.8:g.60970091_60970092del	NCBI36
NG_023393.1:g.20919_20920del , LRG_519:g.20919_20920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.473_474del MANE Select	ENSP00000301761.3:p.Leu158ArgfsTer5
ENST00000301761.6:c.473_474del	ENSP00000301761.2:p.Leu158ArgfsTer5
ENST00000536670.5:n.396+7930_396+7931del
ENST00000537782.5:c.*119_*120del	ENSP00000469951.1:n.*119_*120del
ENST00000538594.5:c.370+7930_370+7931del	ENSP00000440939.1:n.370+7930_370+7931del
ENST00000541135.5:c.377+7923_377+7924del	ENSP00000443130.1:n.377+7923_377+7924del
ENST00000542074.1:c.*52_*53del	ENSP00000469670.1:n.*52_*53del
ENST00000542794.5:c.*475_*476del	ENSP00000439983.1:n.*475_*476del
ENST00000543044.2:c.437_438del	ENSP00000440219.1:p.Leu146ArgfsTer5
ENST00000543265.1:c.*96_*97del	ENSP00000443660.1:n.*96_*97del
ENST00000544025.5:n.465+7930_465+7931del
ENST00000544801.5:c.370+7930_370+7931del	ENSP00000442581.1:n.370+7930_370+7931del
ENST00000544880.1:n.374+7930_374+7931del
NM_017841.2:c.473_474del , LRG_519t1:c.473_474del	NP_060311.1:p.Leu158ArgfsTer5
NM_017841.4:c.473_474del MANE Select	NP_060311.1:p.Leu158ArgfsTer5