Canonical Allele Identifier: CA7491330

Gene: NDUFAF1

Linked Data

• dbSNP Id: rs762552143
• ExAC: 15:41688747 CCTCAGAG / C
• gnomAD v2: 15-41688747-CCTCAGAG-C
• gnomAD v4: 15-41396549-CCTCAGAG-C
• MyVariant Identifiers: chr15:g.41688748_41688754del (hg19) ; chr15:g.41396550_41396556del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41396557_41396563del , CM000677.2:g.41396557_41396563del	GRCh38
NC_000015.9:g.41688755_41688761del , CM000677.1:g.41688755_41688761del	GRCh37
NC_000015.8:g.39476047_39476053del	NCBI36
NG_031924.1:g.10905_10911del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260361.9:c.504_510del MANE Select	ENSP00000260361.4:p.Ser168ArgfsTer16
ENST00000558719.2:c.504_510del	ENSP00000454083.2:p.Ser168ArgfsTer16
ENST00000560978.2:c.504_510del	ENSP00000453944.2:p.Ser168ArgfsTer16
ENST00000676533.1:c.504_510del	ENSP00000504040.1:p.Ser168ArgfsTer16
ENST00000676906.1:c.45_51del	ENSP00000503122.1:p.Ser15ArgfsTer16
ENST00000677477.1:n.1730_1736del
ENST00000678029.1:c.504_510del	ENSP00000503887.1:p.Ser168ArgfsTer16
ENST00000678745.1:c.504_510del	ENSP00000503632.1:p.Ser168ArgfsTer16
ENST00000679094.1:c.504_510del	ENSP00000504295.1:p.Ser168ArgfsTer16
ENST00000679240.1:n.902_908del
ENST00000260361.8:c.504_510del	ENSP00000260361.4:p.Ser168ArgfsTer16
ENST00000558719.1:c.504_510del	ENSP00000454083.1:p.Ser168ArgfsTer16
ENST00000559127.5:c.504_510del	ENSP00000453027.1:p.Ser168ArgfsTer16
ENST00000560978.1:c.504_510del	ENSP00000453944.1:p.Ser168ArgfsTer16
NM_016013.3:c.504_510del	NP_057097.2:p.Ser168ArgfsTer16
NR_045620.1:n.902_908del
XM_006720555.1:c.504_510del	XP_006720618.1:p.Ser168ArgfsTer16
XM_011521658.1:c.504_510del	XP_011519960.1:p.Ser168ArgfsTer16
XM_011521659.1:c.504_510del	XP_011519961.1:p.Ser168ArgfsTer16
XM_006720555.3:c.504_510del	XP_006720618.1:p.Ser168ArgfsTer16
XM_011521659.3:c.504_510del	XP_011519961.1:p.Ser168ArgfsTer16
XM_024449945.1:c.504_510del	XP_024305713.1:p.Ser168ArgfsTer16
NM_016013.4:c.504_510del MANE Select	NP_057097.2:p.Ser168ArgfsTer16
NR_045620.2:n.938_944del