Canonical Allele Identifier: CA969058811

Gene: NDUFAF1

Linked Data

• dbSNP Id: rs2050399689
• gnomAD v3: 15-41397078-TGTAA-T
• gnomAD v4: 15-41397078-TGTAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41397081_41397084del , CM000677.2:g.41397081_41397084del	GRCh38
NC_000015.9:g.41689279_41689282del , CM000677.1:g.41689279_41689282del	GRCh37
NC_000015.8:g.39476571_39476574del	NCBI36
NG_031924.1:g.10379_10382del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260361.9:c.-23_-20del MANE Select	ENSP00000260361.4:n.-23_-20del
ENST00000558719.2:c.-23_-20del	ENSP00000454083.2:n.-23_-20del
ENST00000560978.2:c.-23_-20del	ENSP00000453944.2:n.-23_-20del
ENST00000676533.1:c.-23_-20del	ENSP00000504040.1:n.-23_-20del
ENST00000676906.1:c.-359-123_-359-120del	ENSP00000503122.1:n.-359-123_-359-120del
ENST00000677477.1:n.1204_1207del
ENST00000678029.1:c.-23_-20del	ENSP00000503887.1:n.-23_-20del
ENST00000678745.1:c.-23_-20del	ENSP00000503632.1:n.-23_-20del
ENST00000679094.1:c.-23_-20del	ENSP00000504295.1:n.-23_-20del
ENST00000679240.1:n.376_379del
ENST00000260361.8:c.-23_-20del	ENSP00000260361.4:n.-23_-20del
ENST00000558719.1:c.-23_-20del	ENSP00000454083.1:n.-23_-20del
ENST00000559127.5:c.-23_-20del	ENSP00000453027.1:n.-23_-20del
ENST00000560978.1:c.-23_-20del	ENSP00000453944.1:n.-23_-20del
NM_016013.3:c.-23_-20del	NP_057097.2:n.-23_-20del
NR_045620.1:n.376_379del
XM_006720555.1:c.-23_-20del	XP_006720618.1:n.-23_-20del
XM_011521658.1:c.-23_-20del	XP_011519960.1:n.-23_-20del
XM_011521659.1:c.-23_-20del	XP_011519961.1:n.-23_-20del
XM_006720555.3:c.-23_-20del	XP_006720618.1:n.-23_-20del
XM_011521659.3:c.-23_-20del	XP_011519961.1:n.-23_-20del
XM_024449945.1:c.-23_-20del	XP_024305713.1:n.-23_-20del
NM_016013.4:c.-23_-20del MANE Select	NP_057097.2:n.-23_-20del
NR_045620.2:n.412_415del