Canonical Allele Identifier: CA939089279
Gene: NDUFS8 HGNC NCBI

Linked Data

gnomAD v3: 11-68033280-C-CATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT
gnomAD v4: 11-68033280-C-CATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68033280_68033281insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT , CM000673.2:g.68033280_68033281insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT GRCh38
NC_000011.9:g.67800747_67800748insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT , CM000673.1:g.67800747_67800748insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT GRCh37
NC_000011.8:g.67557323_67557324insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT NCBI36
NG_017040.1:g.7664_7665insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000313468.10:c.369_370insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT MANE Select ENSP00000315774.5:p.Gln124MetfsTer53
ENST00000313468.9:c.369_370insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT ENSP00000315774.5:p.Gln124MetfsTer53
ENST00000432321.6:n.486_487insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT
ENST00000453471.6:c.369_370insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT ENSP00000403972.2:p.Gln124MetfsTer?
ENST00000524810.5:c.140_141insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT
ENST00000525419.5:c.315_316insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT ENSP00000433521.1:p.Gln106MetfsTer53
ENST00000526339.5:c.369_370insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT ENSP00000436287.1:p.Gln124MetfsTer53
ENST00000526446.5:c.*424_*425insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT ENSP00000433645.1:n.*424_*425insATGGCAATCACGATCGAAAGCGATGTGCG...
ENST00000528492.1:c.-67+2547_-67+2548insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT ENSP00000432848.1:n.-67+2547_-67+2548insATGGCAATCACGATCGAAAGC...
ENST00000529645.1:c.547_548insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT ENSP00000431293.1:n.547_548insATGGCAATCACGATCGAAAGCGATGTGCGCG...
ENST00000532399.1:n.1074_1075insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT
NM_002496.3:c.369_370insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT NP_002487.1:p.Gln124MetfsTer53
XM_005274013.1:c.369_370insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT XP_005274070.1:p.Gln124MetfsTer53
XM_005274014.1:c.369_370insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT XP_005274071.1:p.Gln124MetfsTer53
XM_005274015.1:c.249_250insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT XP_005274072.1:p.Gln84MetfsTer53
XM_011545053.1:c.369_370insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT XP_011543355.1:p.Gln124MetfsTer53
NM_002496.4:c.369_370insATGGCAATCACGATCGAAAGCGATGTGCGCGGCGACGGCAGCCGCCGCACGACGCGTTACGACATCGACCTGACCAAGTGCATCTT MANE Select NP_002487.1:p.Gln124MetfsTer53
Search 100 bp 5'
Search 100 bp 3'