Canonical Allele Identifier: CA2614684338

Gene: NDUFS8

Linked Data

• gnomAD v4: 11-68033134-C-CCCTCGTGAATGGGAATGATGAGGGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033134_68033135insCCTCGTGAATGGGAATGATGAGGGCT , CM000673.2:g.68033134_68033135insCCTCGTGAATGGGAATGATGAGGGCT	GRCh38
NC_000011.9:g.67800601_67800602insCCTCGTGAATGGGAATGATGAGGGCT , CM000673.1:g.67800601_67800602insCCTCGTGAATGGGAATGATGAGGGCT	GRCh37
NC_000011.8:g.67557177_67557178insCCTCGTGAATGGGAATGATGAGGGCT	NCBI36
NG_017040.1:g.7518_7519insCCTCGTGAATGGGAATGATGAGGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.223_224insCCTCGTGAATGGGAATGATGAGGGCT MANE Select	ENSP00000315774.5:p.Leu75ProfsTer3
ENST00000313468.9:c.223_224insCCTCGTGAATGGGAATGATGAGGGCT	ENSP00000315774.5:p.Leu75ProfsTer3
ENST00000432321.6:n.340_341insCCTCGTGAATGGGAATGATGAGGGCT
ENST00000453471.6:c.223_224insCCTCGTGAATGGGAATGATGAGGGCT	ENSP00000403972.2:p.Leu75ProfsTer3
ENST00000525419.5:c.169_170insCCTCGTGAATGGGAATGATGAGGGCT	ENSP00000433521.1:p.Leu57ProfsTer3
ENST00000525628.1:c.223_224insCCTCGTGAATGGGAATGATGAGGGCT	ENSP00000432968.1:p.Leu75ProfsTer3
ENST00000526339.5:c.223_224insCCTCGTGAATGGGAATGATGAGGGCT	ENSP00000436287.1:p.Leu75ProfsTer3
ENST00000526446.5:c.*278_*279insCCTCGTGAATGGGAATGATGAGGGCT	ENSP00000433645.1:n.*278_*279insCCTCGTGAATGGGAATGATGAGGGCT
ENST00000528492.1:c.-67+2401_-67+2402insCCTCGTGAATGGGAATGATGAGGGCT	ENSP00000432848.1:n.-67+2401_-67+2402insCCTCGTGAATGGGAATGATGA...
ENST00000529645.1:c.401_402insCCTCGTGAATGGGAATGATGAGGGCT	ENSP00000431293.1:n.401_402insCCTCGTGAATGGGAATGATGAGGGCT
ENST00000531228.1:c.*65_*66insCCTCGTGAATGGGAATGATGAGGGCT	ENSP00000433054.1:n.*65_*66insCCTCGTGAATGGGAATGATGAGGGCT
ENST00000532399.1:n.928_929insCCTCGTGAATGGGAATGATGAGGGCT
NM_002496.3:c.223_224insCCTCGTGAATGGGAATGATGAGGGCT	NP_002487.1:p.Leu75ProfsTer3
XM_005274013.1:c.223_224insCCTCGTGAATGGGAATGATGAGGGCT	XP_005274070.1:p.Leu75ProfsTer3
XM_005274014.1:c.223_224insCCTCGTGAATGGGAATGATGAGGGCT	XP_005274071.1:p.Leu75ProfsTer3
XM_005274015.1:c.103_104insCCTCGTGAATGGGAATGATGAGGGCT	XP_005274072.1:p.Leu35ProfsTer3
XM_011545053.1:c.223_224insCCTCGTGAATGGGAATGATGAGGGCT	XP_011543355.1:p.Leu75ProfsTer3
NM_002496.4:c.223_224insCCTCGTGAATGGGAATGATGAGGGCT MANE Select	NP_002487.1:p.Leu75ProfsTer3