Canonical Allele Identifier: CA2183422780

Gene: MTFMT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029319_65029320delinsAG , CM000677.2:g.65029319_65029320delinsAG	GRCh38
NC_000015.9:g.65321657_65321658delinsAG , CM000677.1:g.65321657_65321658delinsAG	GRCh37
NC_000015.8:g.63108710_63108711delinsAG	NCBI36
NG_029184.1:g.5320_5321delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+85_209+86delinsCT MANE Select	ENSP00000220058.4:n.209+85_209+86delinsCT
ENST00000220058.8:c.209+85_209+86delinsCT	ENSP00000220058.4:n.209+85_209+86delinsCT
ENST00000543678.1:c.209+85_209+86delinsCT	ENSP00000443754.1:n.209+85_209+86delinsCT
ENST00000558460.5:c.209+85_209+86delinsCT	ENSP00000452646.1:n.209+85_209+86delinsCT
ENST00000558614.1:n.170+85_170+86delinsCT
ENST00000559633.1:n.128+85_128+86delinsCT
ENST00000560717.5:c.194+85_194+86delinsCT	ENSP00000457257.1:n.194+85_194+86delinsCT
NM_139242.3:c.209+85_209+86delinsCT	NP_640335.2:n.209+85_209+86delinsCT
XM_005254158.3:c.-115_-114delinsCT	XP_005254215.1:n.-115_-114delinsCT
XM_005254158.5:c.294_295delinsCT	XP_005254215.2:p.Phe98=
XR_001751081.1:n.309_310delinsCT
NM_139242.4:c.209+85_209+86delinsCT MANE Select	NP_640335.2:n.209+85_209+86delinsCT