Canonical Allele Identifier: CA2627906762

Gene: NDUFAF1

Linked Data

• gnomAD v4: 15-41396764-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41396766del , CM000677.2:g.41396766del	GRCh38
NC_000015.9:g.41688964del , CM000677.1:g.41688964del	GRCh37
NC_000015.8:g.39476256del	NCBI36
NG_031924.1:g.10696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260361.9:c.295del MANE Select	ENSP00000260361.4:p.Asp99MetfsTer?
ENST00000558719.2:c.295del	ENSP00000454083.2:p.Asp99MetfsTer?
ENST00000560978.2:c.295del	ENSP00000453944.2:p.Asp99MetfsTer?
ENST00000676533.1:c.295del	ENSP00000504040.1:p.Asp99MetfsTer?
ENST00000676906.1:c.-165del	ENSP00000503122.1:n.-165del
ENST00000677477.1:n.1521del
ENST00000678029.1:c.295del	ENSP00000503887.1:p.Asp99MetfsTer?
ENST00000678745.1:c.295del	ENSP00000503632.1:p.Asp99MetfsTer?
ENST00000679094.1:c.295del	ENSP00000504295.1:p.Asp99MetfsTer?
ENST00000679240.1:n.693del
ENST00000260361.8:c.295del	ENSP00000260361.4:p.Asp99MetfsTer?
ENST00000558719.1:c.295del	ENSP00000454083.1:p.Asp99MetfsTer?
ENST00000559127.5:c.295del	ENSP00000453027.1:p.Asp99MetfsTer?
ENST00000560978.1:c.295del	ENSP00000453944.1:p.Asp99MetfsTer?
NM_016013.3:c.295del	NP_057097.2:p.Asp99MetfsTer?
NR_045620.1:n.693del
XM_006720555.1:c.295del	XP_006720618.1:p.Asp99MetfsTer?
XM_011521658.1:c.295del	XP_011519960.1:p.Asp99MetfsTer?
XM_011521659.1:c.295del	XP_011519961.1:p.Asp99MetfsTer?
XM_006720555.3:c.295del	XP_006720618.1:p.Asp99MetfsTer?
XM_011521659.3:c.295del	XP_011519961.1:p.Asp99MetfsTer?
XM_024449945.1:c.295del	XP_024305713.1:p.Asp99MetfsTer?
NM_016013.4:c.295del MANE Select	NP_057097.2:p.Asp99MetfsTer?
NR_045620.2:n.729del