Canonical Allele Identifier: CA617840474

Gene: NDUFAF1

Linked Data

• dbSNP Id: rs1250481429
• gnomAD v2: 15-41689029-TCTC-T
• gnomAD v4: 15-41396831-TCTC-T
• MyVariant Identifiers: chr15:g.41689030_41689032del (hg19) ; chr15:g.41396832_41396834del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41396835_41396837del , CM000677.2:g.41396835_41396837del	GRCh38
NC_000015.9:g.41689033_41689035del , CM000677.1:g.41689033_41689035del	GRCh37
NC_000015.8:g.39476325_39476327del	NCBI36
NG_031924.1:g.10627_10629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260361.9:c.226_228del MANE Select	ENSP00000260361.4:p.Glu76del
ENST00000558719.2:c.226_228del	ENSP00000454083.2:p.Glu76del
ENST00000560978.2:c.226_228del	ENSP00000453944.2:p.Glu76del
ENST00000676533.1:c.226_228del	ENSP00000504040.1:p.Glu76del
ENST00000676906.1:c.-234_-232del	ENSP00000503122.1:n.-234_-232del
ENST00000677477.1:n.1452_1454del
ENST00000678029.1:c.226_228del	ENSP00000503887.1:p.Glu76del
ENST00000678745.1:c.226_228del	ENSP00000503632.1:p.Glu76del
ENST00000679094.1:c.226_228del	ENSP00000504295.1:p.Glu76del
ENST00000679240.1:n.624_626del
ENST00000260361.8:c.226_228del	ENSP00000260361.4:p.Glu76del
ENST00000558719.1:c.226_228del	ENSP00000454083.1:p.Glu76del
ENST00000559127.5:c.226_228del	ENSP00000453027.1:p.Glu76del
ENST00000560978.1:c.226_228del	ENSP00000453944.1:p.Glu76del
NM_016013.3:c.226_228del	NP_057097.2:p.Glu76del
NR_045620.1:n.624_626del
XM_006720555.1:c.226_228del	XP_006720618.1:p.Glu76del
XM_011521658.1:c.226_228del	XP_011519960.1:p.Glu76del
XM_011521659.1:c.226_228del	XP_011519961.1:p.Glu76del
XM_006720555.3:c.226_228del	XP_006720618.1:p.Glu76del
XM_011521659.3:c.226_228del	XP_011519961.1:p.Glu76del
XM_024449945.1:c.226_228del	XP_024305713.1:p.Glu76del
NM_016013.4:c.226_228del MANE Select	NP_057097.2:p.Glu76del
NR_045620.2:n.660_662del