Canonical Allele Identifier: CA2183422790
Gene: MTFMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029334_65029335delinsTC , CM000677.2:g.65029334_65029335delinsTC GRCh38
NC_000015.9:g.65321672_65321673delinsTC , CM000677.1:g.65321672_65321673delinsTC GRCh37
NC_000015.8:g.63108725_63108726delinsTC NCBI36
NG_029184.1:g.5305_5306delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.209+70_209+71delinsGA MANE Select ENSP00000220058.4:n.209+70_209+71delinsGA
ENST00000220058.8:c.209+70_209+71delinsGA ENSP00000220058.4:n.209+70_209+71delinsGA
ENST00000543678.1:c.209+70_209+71delinsGA ENSP00000443754.1:n.209+70_209+71delinsGA
ENST00000558460.5:c.209+70_209+71delinsGA ENSP00000452646.1:n.209+70_209+71delinsGA
ENST00000558614.1:n.170+70_170+71delinsGA
ENST00000559633.1:n.128+70_128+71delinsGA
ENST00000560717.5:c.194+70_194+71delinsGA ENSP00000457257.1:n.194+70_194+71delinsGA
NM_139242.3:c.209+70_209+71delinsGA NP_640335.2:n.209+70_209+71delinsGA
XM_005254158.3:c.-130_-129delinsGA XP_005254215.1:n.-130_-129delinsGA
XM_005254158.5:c.279_280delinsGA XP_005254215.2:p.Pro93=
XR_001751081.1:n.294_295delinsGA
NM_139242.4:c.209+70_209+71delinsGA MANE Select NP_640335.2:n.209+70_209+71delinsGA