Canonical Allele Identifier: CA2514992507

Gene: NDUFS8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68033280_68033281insGACATCGATCTGACCAAGTGCAT , CM000673.2:g.68033280_68033281insGACATCGATCTGACCAAGTGCAT	GRCh38
NC_000011.9:g.67800747_67800748insGACATCGATCTGACCAAGTGCAT , CM000673.1:g.67800747_67800748insGACATCGATCTGACCAAGTGCAT	GRCh37
NC_000011.8:g.67557323_67557324insGACATCGATCTGACCAAGTGCAT	NCBI36
NG_017040.1:g.7664_7665insGACATCGATCTGACCAAGTGCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313468.10:c.369_370insGACATCGATCTGACCAAGTGCAT MANE Select	ENSP00000315774.5:p.Gln124AspfsTer32
ENST00000313468.9:c.369_370insGACATCGATCTGACCAAGTGCAT	ENSP00000315774.5:p.Gln124AspfsTer32
ENST00000432321.6:n.486_487insGACATCGATCTGACCAAGTGCAT
ENST00000453471.6:c.369_370insGACATCGATCTGACCAAGTGCAT	ENSP00000403972.2:p.Gln124AspfsTer?
ENST00000524810.5:c.140_141insGACATCGATCTGACCAAGTGCAT
ENST00000525419.5:c.315_316insGACATCGATCTGACCAAGTGCAT	ENSP00000433521.1:p.Gln106AspfsTer32
ENST00000526339.5:c.369_370insGACATCGATCTGACCAAGTGCAT	ENSP00000436287.1:p.Gln124AspfsTer32
ENST00000526446.5:c.*424_*425insGACATCGATCTGACCAAGTGCAT	ENSP00000433645.1:n.*424_*425insGACATCGATCTGACCAAGTGCAT
ENST00000528492.1:c.-67+2547_-67+2548insGACATCGATCTGACCAAGTGCAT	ENSP00000432848.1:n.-67+2547_-67+2548insGACATCGATCTGACCAAGTGC...
ENST00000529645.1:c.547_548insGACATCGATCTGACCAAGTGCAT	ENSP00000431293.1:n.547_548insGACATCGATCTGACCAAGTGCAT
ENST00000532399.1:n.1074_1075insGACATCGATCTGACCAAGTGCAT
NM_002496.3:c.369_370insGACATCGATCTGACCAAGTGCAT	NP_002487.1:p.Gln124AspfsTer32
XM_005274013.1:c.369_370insGACATCGATCTGACCAAGTGCAT	XP_005274070.1:p.Gln124AspfsTer32
XM_005274014.1:c.369_370insGACATCGATCTGACCAAGTGCAT	XP_005274071.1:p.Gln124AspfsTer32
XM_005274015.1:c.249_250insGACATCGATCTGACCAAGTGCAT	XP_005274072.1:p.Gln84AspfsTer32
XM_011545053.1:c.369_370insGACATCGATCTGACCAAGTGCAT	XP_011543355.1:p.Gln124AspfsTer32
NM_002496.4:c.369_370insGACATCGATCTGACCAAGTGCAT MANE Select	NP_002487.1:p.Gln124AspfsTer32