Canonical Allele Identifier: CA2804503426

Gene: MTFMT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029259del , CM000677.2:g.65029259del	GRCh38
NC_000015.9:g.65321597del , CM000677.1:g.65321597del	GRCh37
NC_000015.8:g.63108650del	NCBI36
NG_029184.1:g.5383del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+148del MANE Select	ENSP00000220058.4:n.209+148del
ENST00000220058.8:c.209+148del	ENSP00000220058.4:n.209+148del
ENST00000543678.1:c.209+148del	ENSP00000443754.1:n.209+148del
ENST00000558460.5:c.209+148del	ENSP00000452646.1:n.209+148del
ENST00000558614.1:n.170+148del
ENST00000559633.1:n.128+148del
ENST00000560717.5:c.194+148del	ENSP00000457257.1:n.194+148del
NM_139242.3:c.209+148del	NP_640335.2:n.209+148del
XM_005254158.3:c.-52del	XP_005254215.1:n.-52del
XM_005254158.5:c.357del	XP_005254215.2:p.Arg120GlufsTer9
XR_001751081.1:n.372del
NM_139242.4:c.209+148del MANE Select	NP_640335.2:n.209+148del