Canonical Allele Identifier: CA2172237945

Gene: NDUFAF1

Linked Data

• dbSNP Id: rs2050389138

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41396532del , CM000677.2:g.41396532del	GRCh38
NC_000015.9:g.41688730del , CM000677.1:g.41688730del	GRCh37
NC_000015.8:g.39476022del	NCBI36
NG_031924.1:g.10929del

Transcript Alleles

HGVS	Amino-acid change
ENST00000260361.9:c.528del MANE Select	ENSP00000260361.4:p.Glu176AspfsTer10
ENST00000558719.2:c.528del	ENSP00000454083.2:p.Glu176AspfsTer10
ENST00000560978.2:c.528del	ENSP00000453944.2:p.Glu176AspfsTer10
ENST00000676533.1:c.528del	ENSP00000504040.1:p.Glu176AspfsTer10
ENST00000676906.1:c.69del	ENSP00000503122.1:p.Glu23AspfsTer10
ENST00000677477.1:n.1754del
ENST00000678029.1:c.528del	ENSP00000503887.1:p.Glu176AspfsTer10
ENST00000678745.1:c.528del	ENSP00000503632.1:p.Glu176AspfsTer10
ENST00000679094.1:c.528del	ENSP00000504295.1:p.Glu176AspfsTer10
ENST00000679240.1:n.926del
ENST00000260361.8:c.528del	ENSP00000260361.4:p.Glu176AspfsTer10
ENST00000558719.1:c.528del	ENSP00000454083.1:p.Glu176AspfsTer10
ENST00000559127.5:c.528del	ENSP00000453027.1:p.Glu176AspfsTer10
ENST00000560978.1:c.528del	ENSP00000453944.1:p.Glu176AspfsTer10
NM_016013.3:c.528del	NP_057097.2:p.Glu176AspfsTer10
NR_045620.1:n.926del
XM_006720555.1:c.528del	XP_006720618.1:p.Glu176AspfsTer10
XM_011521658.1:c.528del	XP_011519960.1:p.Glu176AspfsTer10
XM_011521659.1:c.528del	XP_011519961.1:p.Glu176AspfsTer10
XM_006720555.3:c.528del	XP_006720618.1:p.Glu176AspfsTer10
XM_011521659.3:c.528del	XP_011519961.1:p.Glu176AspfsTer10
XM_024449945.1:c.528del	XP_024305713.1:p.Glu176AspfsTer10
NM_016013.4:c.528del MANE Select	NP_057097.2:p.Glu176AspfsTer10
NR_045620.2:n.962del