Canonical Allele Identifier: CA2183422759

Gene: MTFMT

Linked Data

• dbSNP Id: rs2086457495

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029279del , CM000677.2:g.65029279del	GRCh38
NC_000015.9:g.65321617del , CM000677.1:g.65321617del	GRCh37
NC_000015.8:g.63108670del	NCBI36
NG_029184.1:g.5361del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+126del MANE Select	ENSP00000220058.4:n.209+126del
ENST00000220058.8:c.209+126del	ENSP00000220058.4:n.209+126del
ENST00000543678.1:c.209+126del	ENSP00000443754.1:n.209+126del
ENST00000558460.5:c.209+126del	ENSP00000452646.1:n.209+126del
ENST00000558614.1:n.170+126del
ENST00000559633.1:n.128+126del
ENST00000560717.5:c.194+126del	ENSP00000457257.1:n.194+126del
NM_139242.3:c.209+126del	NP_640335.2:n.209+126del
XM_005254158.3:c.-74del	XP_005254215.1:n.-74del
XM_005254158.5:c.335del	XP_005254215.2:p.Arg112AsnfsTer17
XR_001751081.1:n.350del
NM_139242.4:c.209+126del MANE Select	NP_640335.2:n.209+126del