Canonical Allele Identifier: CA2804503425
Gene: MTFMT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029229del , CM000677.2:g.65029229del GRCh38
NC_000015.9:g.65321567del , CM000677.1:g.65321567del GRCh37
NC_000015.8:g.63108620del NCBI36
NG_029184.1:g.5412del

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.209+177del MANE Select ENSP00000220058.4:n.209+177del
ENST00000220058.8:c.209+177del ENSP00000220058.4:n.209+177del
ENST00000543678.1:c.209+177del ENSP00000443754.1:n.209+177del
ENST00000558460.5:c.209+177del ENSP00000452646.1:n.209+177del
ENST00000558614.1:n.170+177del
ENST00000559633.1:n.128+177del
ENST00000560717.5:c.194+177del ENSP00000457257.1:n.194+177del
NM_139242.3:c.209+177del NP_640335.2:n.209+177del
XM_005254158.3:c.-47+24del XP_005254215.1:n.-47+24del
XM_005254158.5:c.362+24del XP_005254215.2:n.362+24del
XR_001751081.1:n.377+24del
NM_139242.4:c.209+177del MANE Select NP_640335.2:n.209+177del
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