Canonical Allele Identifier: CA2183422756

Gene: MTFMT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029278_65029279delinsTC , CM000677.2:g.65029278_65029279delinsTC	GRCh38
NC_000015.9:g.65321616_65321617delinsTC , CM000677.1:g.65321616_65321617delinsTC	GRCh37
NC_000015.8:g.63108669_63108670delinsTC	NCBI36
NG_029184.1:g.5361_5362delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+126_209+127delinsGA MANE Select	ENSP00000220058.4:n.209+126_209+127delinsGA
ENST00000220058.8:c.209+126_209+127delinsGA	ENSP00000220058.4:n.209+126_209+127delinsGA
ENST00000543678.1:c.209+126_209+127delinsGA	ENSP00000443754.1:n.209+126_209+127delinsGA
ENST00000558460.5:c.209+126_209+127delinsGA	ENSP00000452646.1:n.209+126_209+127delinsGA
ENST00000558614.1:n.170+126_170+127delinsGA
ENST00000559633.1:n.128+126_128+127delinsGA
ENST00000560717.5:c.194+126_194+127delinsGA	ENSP00000457257.1:n.194+126_194+127delinsGA
NM_139242.3:c.209+126_209+127delinsGA	NP_640335.2:n.209+126_209+127delinsGA
XM_005254158.3:c.-74_-73delinsGA	XP_005254215.1:n.-74_-73delinsGA
XM_005254158.5:c.335_336delinsGA	XP_005254215.2:p.Arg112=
XR_001751081.1:n.350_351delinsGA
NM_139242.4:c.209+126_209+127delinsGA MANE Select	NP_640335.2:n.209+126_209+127delinsGA