Canonical Allele Identifier: CA7491388

Gene: NDUFAF1

Linked Data

• ClinVar Variation Id: 2663743
• ClinVar RCV Id: RCV003443459
• dbSNP Id: rs754706556
• ExAC: 15:41689105 TGAG / T
• gnomAD v2: 15-41689105-TGAG-T
• gnomAD v4: 15-41396907-TGAG-T
• MyVariant Identifiers: chr15:g.41689106_41689108del (hg19) ; chr15:g.41396908_41396910del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41396912_41396914del , CM000677.2:g.41396912_41396914del	GRCh38
NC_000015.9:g.41689110_41689112del , CM000677.1:g.41689110_41689112del	GRCh37
NC_000015.8:g.39476402_39476404del	NCBI36
NG_031924.1:g.10551_10553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260361.9:c.150_152del MANE Select	ENSP00000260361.4:p.Ser51del
ENST00000558719.2:c.150_152del	ENSP00000454083.2:p.Ser51del
ENST00000560978.2:c.150_152del	ENSP00000453944.2:p.Ser51del
ENST00000676533.1:c.150_152del	ENSP00000504040.1:p.Ser51del
ENST00000676906.1:c.-310_-308del	ENSP00000503122.1:n.-310_-308del
ENST00000677477.1:n.1376_1378del
ENST00000678029.1:c.150_152del	ENSP00000503887.1:p.Ser51del
ENST00000678745.1:c.150_152del	ENSP00000503632.1:p.Ser51del
ENST00000679094.1:c.150_152del	ENSP00000504295.1:p.Ser51del
ENST00000679240.1:n.548_550del
ENST00000260361.8:c.150_152del	ENSP00000260361.4:p.Ser51del
ENST00000558719.1:c.150_152del	ENSP00000454083.1:p.Ser51del
ENST00000559127.5:c.150_152del	ENSP00000453027.1:p.Ser51del
ENST00000560978.1:c.150_152del	ENSP00000453944.1:p.Ser51del
NM_016013.3:c.150_152del	NP_057097.2:p.Ser51del
NR_045620.1:n.548_550del
XM_006720555.1:c.150_152del	XP_006720618.1:p.Ser51del
XM_011521658.1:c.150_152del	XP_011519960.1:p.Ser51del
XM_011521659.1:c.150_152del	XP_011519961.1:p.Ser51del
XM_006720555.3:c.150_152del	XP_006720618.1:p.Ser51del
XM_011521659.3:c.150_152del	XP_011519961.1:p.Ser51del
XM_024449945.1:c.150_152del	XP_024305713.1:p.Ser51del
NM_016013.4:c.150_152del MANE Select	NP_057097.2:p.Ser51del
NR_045620.2:n.584_586del