Canonical Allele Identifier: CA2628983377
Gene: MTFMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029550del , CM000677.2:g.65029550del GRCh38
NC_000015.9:g.65321888del , CM000677.1:g.65321888del GRCh37
NC_000015.8:g.63108941del NCBI36
NG_029184.1:g.5091del

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.65del MANE Select ENSP00000220058.4:p.Pro22ArgfsTer?
ENST00000220058.8:c.65del ENSP00000220058.4:p.Pro22ArgfsTer?
ENST00000543678.1:c.65del ENSP00000443754.1:p.Pro22ArgfsTer?
ENST00000558460.5:c.65del ENSP00000452646.1:p.Pro22ArgfsTer?
ENST00000558614.1:n.26del
ENST00000560717.5:c.50del ENSP00000457257.1:p.Pro17ArgfsTer?
NM_139242.3:c.65del NP_640335.2:p.Pro22ArgfsTer?
XM_005254158.5:c.65del XP_005254215.2:p.Pro22ArgfsTer?
XR_001751081.1:n.80del
NM_139242.4:c.65del MANE Select NP_640335.2:p.Pro22ArgfsTer?