Canonical Allele Identifier: CA2172238239

Gene: NDUFAF1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41396837_41396840delinsCAGA , CM000677.2:g.41396837_41396840delinsCAGA	GRCh38
NC_000015.9:g.41689035_41689038delinsCAGA , CM000677.1:g.41689035_41689038delinsCAGA	GRCh37
NC_000015.8:g.39476327_39476330delinsCAGA	NCBI36
NG_031924.1:g.10621_10624delinsTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260361.9:c.220_223delinsTCTG MANE Select	ENSP00000260361.4:p.Ser74=
ENST00000558719.2:c.220_223delinsTCTG	ENSP00000454083.2:p.Ser74=
ENST00000560978.2:c.220_223delinsTCTG	ENSP00000453944.2:p.Ser74=
ENST00000676533.1:c.220_223delinsTCTG	ENSP00000504040.1:p.Ser74=
ENST00000676906.1:c.-240_-237delinsTCTG	ENSP00000503122.1:n.-240_-237delinsTCTG
ENST00000677477.1:n.1446_1449delinsTCTG
ENST00000678029.1:c.220_223delinsTCTG	ENSP00000503887.1:p.Ser74=
ENST00000678745.1:c.220_223delinsTCTG	ENSP00000503632.1:p.Ser74=
ENST00000679094.1:c.220_223delinsTCTG	ENSP00000504295.1:p.Ser74=
ENST00000679240.1:n.618_621delinsTCTG
ENST00000260361.8:c.220_223delinsTCTG	ENSP00000260361.4:p.Ser74=
ENST00000558719.1:c.220_223delinsTCTG	ENSP00000454083.1:p.Ser74=
ENST00000559127.5:c.220_223delinsTCTG	ENSP00000453027.1:p.Ser74=
ENST00000560978.1:c.220_223delinsTCTG	ENSP00000453944.1:p.Ser74=
NM_016013.3:c.220_223delinsTCTG	NP_057097.2:p.Ser74=
NR_045620.1:n.618_621delinsTCTG
XM_006720555.1:c.220_223delinsTCTG	XP_006720618.1:p.Ser74=
XM_011521658.1:c.220_223delinsTCTG	XP_011519960.1:p.Ser74=
XM_011521659.1:c.220_223delinsTCTG	XP_011519961.1:p.Ser74=
XM_006720555.3:c.220_223delinsTCTG	XP_006720618.1:p.Ser74=
XM_011521659.3:c.220_223delinsTCTG	XP_011519961.1:p.Ser74=
XM_024449945.1:c.220_223delinsTCTG	XP_024305713.1:p.Ser74=
NM_016013.4:c.220_223delinsTCTG MANE Select	NP_057097.2:p.Ser74=
NR_045620.2:n.654_657delinsTCTG