Canonical Allele Identifier: CA2614684104

Gene: NDUFS8

Linked Data

• gnomAD v4: 11-68033004-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033005_68033006insCC , CM000673.2:g.68033005_68033006insCC	GRCh38
NC_000011.9:g.67800472_67800473insCC , CM000673.1:g.67800472_67800473insCC	GRCh37
NC_000011.8:g.67557048_67557049insCC	NCBI36
NG_017040.1:g.7389_7390insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.192_193insCC MANE Select	ENSP00000315774.5:p.Phe65ProfsTer7
ENST00000313468.9:c.192_193insCC	ENSP00000315774.5:p.Phe65ProfsTer7
ENST00000432321.6:n.309_310insCC
ENST00000453471.6:c.192_193insCC	ENSP00000403972.2:p.Phe65ProfsTer7
ENST00000525419.5:c.138_139insCC	ENSP00000433521.1:p.Phe47ProfsTer7
ENST00000525628.1:c.192_193insCC	ENSP00000432968.1:p.Phe65ProfsTer7
ENST00000526339.5:c.192_193insCC	ENSP00000436287.1:p.Phe65ProfsTer7
ENST00000526446.5:c.*247_*248insCC	ENSP00000433645.1:n.*247_*248insCC
ENST00000528492.1:c.-67+2272_-67+2273insCC	ENSP00000432848.1:n.-67+2272_-67+2273insCC
ENST00000529645.1:c.370_371insCC	ENSP00000431293.1:n.370_371insCC
ENST00000531228.1:c.*34_*35insCC	ENSP00000433054.1:n.*34_*35insCC
ENST00000532399.1:n.799_800insCC
NM_002496.3:c.192_193insCC	NP_002487.1:p.Phe65ProfsTer7
XM_005274013.1:c.192_193insCC	XP_005274070.1:p.Phe65ProfsTer7
XM_005274014.1:c.192_193insCC	XP_005274071.1:p.Phe65ProfsTer7
XM_005274015.1:c.72_73insCC	XP_005274072.1:p.Phe25ProfsTer7
XM_011545053.1:c.192_193insCC	XP_011543355.1:p.Phe65ProfsTer7
NM_002496.4:c.192_193insCC MANE Select	NP_002487.1:p.Phe65ProfsTer7