Canonical Allele Identifier: CA712837826

Gene: NDUFAF1

Linked Data

• dbSNP Id: rs1328121914
• MyVariant Identifiers: chr15:g.41688158_41688159del (hg19) ; chr15:g.41395960_41395961del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41395961_41395962del , CM000677.2:g.41395961_41395962del	GRCh38
NC_000015.9:g.41688159_41688160del , CM000677.1:g.41688159_41688160del	GRCh37
NC_000015.8:g.39475451_39475452del	NCBI36
NG_031924.1:g.11500_11501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260361.9:c.573+526_573+527del MANE Select	ENSP00000260361.4:n.573+526_573+527del
ENST00000558719.2:c.573+526_573+527del	ENSP00000454083.2:n.573+526_573+527del
ENST00000560978.2:c.573+526_573+527del	ENSP00000453944.2:n.573+526_573+527del
ENST00000676533.1:c.573+526_573+527del	ENSP00000504040.1:n.573+526_573+527del
ENST00000676906.1:c.114+526_114+527del	ENSP00000503122.1:n.114+526_114+527del
ENST00000677477.1:n.1799+526_1799+527del
ENST00000678029.1:c.573+526_573+527del	ENSP00000503887.1:n.573+526_573+527del
ENST00000678745.1:c.573+526_573+527del	ENSP00000503632.1:n.573+526_573+527del
ENST00000679094.1:c.573+526_573+527del	ENSP00000504295.1:n.573+526_573+527del
ENST00000679240.1:n.971+526_971+527del
ENST00000260361.8:c.573+526_573+527del	ENSP00000260361.4:n.573+526_573+527del
ENST00000559127.5:c.573+526_573+527del	ENSP00000453027.1:n.573+526_573+527del
ENST00000560978.1:c.573+526_573+527del	ENSP00000453944.1:n.573+526_573+527del
NM_016013.3:c.573+526_573+527del	NP_057097.2:n.573+526_573+527del
NR_045620.1:n.971+526_971+527del
XM_006720555.1:c.573+526_573+527del	XP_006720618.1:n.573+526_573+527del
XM_011521658.1:c.573+526_573+527del	XP_011519960.1:n.573+526_573+527del
XM_011521659.1:c.573+526_573+527del	XP_011519961.1:n.573+526_573+527del
XM_006720555.3:c.573+526_573+527del	XP_006720618.1:n.573+526_573+527del
XM_011521659.3:c.573+526_573+527del	XP_011519961.1:n.573+526_573+527del
XM_024449945.1:c.573+526_573+527del	XP_024305713.1:n.573+526_573+527del
NM_016013.4:c.573+526_573+527del MANE Select	NP_057097.2:n.573+526_573+527del
NR_045620.2:n.1007+526_1007+527del