Canonical Allele Identifier: CA617563569

Gene: NDUFAF1

Linked Data

• dbSNP Id: rs1255085015
• gnomAD v2: 15-41688440-CTCGT-C
• gnomAD v3: 15-41396242-CTCGT-C
• gnomAD v4: 15-41396242-CTCGT-C
• MyVariant Identifiers: chr15:g.41688441_41688444del (hg19) ; chr15:g.41396243_41396246del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41396245_41396248del , CM000677.2:g.41396245_41396248del	GRCh38
NC_000015.9:g.41688443_41688446del , CM000677.1:g.41688443_41688446del	GRCh37
NC_000015.8:g.39475735_39475738del	NCBI36
NG_031924.1:g.11215_11218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260361.9:c.573+241_573+244del MANE Select	ENSP00000260361.4:n.573+241_573+244del
ENST00000558719.2:c.573+241_573+244del	ENSP00000454083.2:n.573+241_573+244del
ENST00000560978.2:c.573+241_573+244del	ENSP00000453944.2:n.573+241_573+244del
ENST00000676533.1:c.573+241_573+244del	ENSP00000504040.1:n.573+241_573+244del
ENST00000676906.1:c.114+241_114+244del	ENSP00000503122.1:n.114+241_114+244del
ENST00000677477.1:n.1799+241_1799+244del
ENST00000678029.1:c.573+241_573+244del	ENSP00000503887.1:n.573+241_573+244del
ENST00000678745.1:c.573+241_573+244del	ENSP00000503632.1:n.573+241_573+244del
ENST00000679094.1:c.573+241_573+244del	ENSP00000504295.1:n.573+241_573+244del
ENST00000679240.1:n.971+241_971+244del
ENST00000260361.8:c.573+241_573+244del	ENSP00000260361.4:n.573+241_573+244del
ENST00000559127.5:c.573+241_573+244del	ENSP00000453027.1:n.573+241_573+244del
ENST00000560978.1:c.573+241_573+244del	ENSP00000453944.1:n.573+241_573+244del
NM_016013.3:c.573+241_573+244del	NP_057097.2:n.573+241_573+244del
NR_045620.1:n.971+241_971+244del
XM_006720555.1:c.573+241_573+244del	XP_006720618.1:n.573+241_573+244del
XM_011521658.1:c.573+241_573+244del	XP_011519960.1:n.573+241_573+244del
XM_011521659.1:c.573+241_573+244del	XP_011519961.1:n.573+241_573+244del
XM_006720555.3:c.573+241_573+244del	XP_006720618.1:n.573+241_573+244del
XM_011521659.3:c.573+241_573+244del	XP_011519961.1:n.573+241_573+244del
XM_024449945.1:c.573+241_573+244del	XP_024305713.1:n.573+241_573+244del
NM_016013.4:c.573+241_573+244del MANE Select	NP_057097.2:n.573+241_573+244del
NR_045620.2:n.1007+241_1007+244del