Canonical Allele Identifier: CA2183422851

Gene: MTFMT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029424_65029433delinsGCAGCGCCTC , CM000677.2:g.65029424_65029433delinsGCAGCGCCTC	GRCh38
NC_000015.9:g.65321762_65321771delinsGCAGCGCCTC , CM000677.1:g.65321762_65321771delinsGCAGCGCCTC	GRCh37
NC_000015.8:g.63108815_63108824delinsGCAGCGCCTC	NCBI36
NG_029184.1:g.5207_5216delinsGAGGCGCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.181_190delinsGAGGCGCTGC MANE Select	ENSP00000220058.4:p.Glu61=
ENST00000220058.8:c.181_190delinsGAGGCGCTGC	ENSP00000220058.4:p.Glu61=
ENST00000543678.1:c.181_190delinsGAGGCGCTGC	ENSP00000443754.1:p.Glu61=
ENST00000558460.5:c.181_190delinsGAGGCGCTGC	ENSP00000452646.1:p.Glu61=
ENST00000558614.1:n.142_151delinsGAGGCGCTGC
ENST00000559633.1:n.100_109delinsGAGGCGCTGC
ENST00000560717.5:c.166_175delinsGAGGCGCTGC	ENSP00000457257.1:p.Glu56=
NM_139242.3:c.181_190delinsGAGGCGCTGC	NP_640335.2:p.Glu61=
XM_005254158.5:c.181_190delinsGAGGCGCTGC	XP_005254215.2:p.Glu61=
XR_001751081.1:n.196_205delinsGAGGCGCTGC
NM_139242.4:c.181_190delinsGAGGCGCTGC MANE Select	NP_640335.2:p.Glu61=