Canonical Allele Identifier: CA16619925
Gene: NDUFAF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419281
ClinVar RCV Id: RCV000482043
dbSNP Id: rs1064793767

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.41396528del , CM000677.2:g.41396528del GRCh38
NC_000015.9:g.41688726del , CM000677.1:g.41688726del GRCh37
NC_000015.8:g.39476018del NCBI36
NG_031924.1:g.10933del

Transcript Alleles

HGVS Amino-acid change
ENST00000260361.9:c.532del MANE Select ENSP00000260361.4:p.Thr178ProfsTer8
ENST00000558719.2:c.532del ENSP00000454083.2:p.Thr178ProfsTer8
ENST00000560978.2:c.532del ENSP00000453944.2:p.Thr178ProfsTer8
ENST00000676533.1:c.532del ENSP00000504040.1:p.Thr178ProfsTer8
ENST00000676906.1:c.73del ENSP00000503122.1:p.Thr25ProfsTer8
ENST00000677477.1:n.1758del
ENST00000678029.1:c.532del ENSP00000503887.1:p.Thr178ProfsTer8
ENST00000678745.1:c.532del ENSP00000503632.1:p.Thr178ProfsTer8
ENST00000679094.1:c.532del ENSP00000504295.1:p.Thr178ProfsTer8
ENST00000679240.1:n.930del
ENST00000260361.8:c.532del ENSP00000260361.4:p.Thr178ProfsTer8
ENST00000558719.1:c.532del ENSP00000454083.1:p.Thr178ProfsTer8
ENST00000559127.5:c.532del ENSP00000453027.1:p.Thr178ProfsTer8
ENST00000560978.1:c.532del ENSP00000453944.1:p.Thr178ProfsTer8
NM_016013.3:c.532del NP_057097.2:p.Thr178ProfsTer8
NR_045620.1:n.930del
XM_006720555.1:c.532del XP_006720618.1:p.Thr178ProfsTer8
XM_011521658.1:c.532del XP_011519960.1:p.Thr178ProfsTer8
XM_011521659.1:c.532del XP_011519961.1:p.Thr178ProfsTer8
XM_006720555.3:c.532del XP_006720618.1:p.Thr178ProfsTer8
XM_011521659.3:c.532del XP_011519961.1:p.Thr178ProfsTer8
XM_024449945.1:c.532del XP_024305713.1:p.Thr178ProfsTer8
NM_016013.4:c.532del MANE Select NP_057097.2:p.Thr178ProfsTer8
NR_045620.2:n.966del