Canonical Allele Identifier: CA2628983266

Gene: MTFMT

Linked Data

• gnomAD v4: 15-65029307-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029309_65029310dup , CM000677.2:g.65029309_65029310dup	GRCh38
NC_000015.9:g.65321647_65321648dup , CM000677.1:g.65321647_65321648dup	GRCh37
NC_000015.8:g.63108700_63108701dup	NCBI36
NG_029184.1:g.5331_5332dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+96_209+97dup MANE Select	ENSP00000220058.4:n.209+96_209+97dup
ENST00000220058.8:c.209+96_209+97dup	ENSP00000220058.4:n.209+96_209+97dup
ENST00000543678.1:c.209+96_209+97dup	ENSP00000443754.1:n.209+96_209+97dup
ENST00000558460.5:c.209+96_209+97dup	ENSP00000452646.1:n.209+96_209+97dup
ENST00000558614.1:n.170+96_170+97dup
ENST00000559633.1:n.128+96_128+97dup
ENST00000560717.5:c.194+96_194+97dup	ENSP00000457257.1:n.194+96_194+97dup
NM_139242.3:c.209+96_209+97dup	NP_640335.2:n.209+96_209+97dup
XM_005254158.3:c.-104_-103dup	XP_005254215.1:n.-104_-103dup
XM_005254158.5:c.305_306dup	XP_005254215.2:p.Ala103LysfsTer27
XR_001751081.1:n.320_321dup
NM_139242.4:c.209+96_209+97dup MANE Select	NP_640335.2:n.209+96_209+97dup