Canonical Allele Identifier: CA2183422754
Gene: MTFMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029270_65029271delinsCG , CM000677.2:g.65029270_65029271delinsCG GRCh38
NC_000015.9:g.65321608_65321609delinsCG , CM000677.1:g.65321608_65321609delinsCG GRCh37
NC_000015.8:g.63108661_63108662delinsCG NCBI36
NG_029184.1:g.5369_5370delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.209+134_209+135delinsCG MANE Select ENSP00000220058.4:n.209+134_209+135delinsCG
ENST00000220058.8:c.209+134_209+135delinsCG ENSP00000220058.4:n.209+134_209+135delinsCG
ENST00000543678.1:c.209+134_209+135delinsCG ENSP00000443754.1:n.209+134_209+135delinsCG
ENST00000558460.5:c.209+134_209+135delinsCG ENSP00000452646.1:n.209+134_209+135delinsCG
ENST00000558614.1:n.170+134_170+135delinsCG
ENST00000559633.1:n.128+134_128+135delinsCG
ENST00000560717.5:c.194+134_194+135delinsCG ENSP00000457257.1:n.194+134_194+135delinsCG
NM_139242.3:c.209+134_209+135delinsCG NP_640335.2:n.209+134_209+135delinsCG
XM_005254158.3:c.-66_-65delinsCG XP_005254215.1:n.-66_-65delinsCG
XM_005254158.5:c.343_344delinsCG XP_005254215.2:p.Arg115=
XR_001751081.1:n.358_359delinsCG
NM_139242.4:c.209+134_209+135delinsCG MANE Select NP_640335.2:n.209+134_209+135delinsCG