Canonical Allele Identifier: CA2628983363

Gene: MTFMT

Linked Data

• gnomAD v4: 15-65029406-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029408del , CM000677.2:g.65029408del	GRCh38
NC_000015.9:g.65321746del , CM000677.1:g.65321746del	GRCh37
NC_000015.8:g.63108799del	NCBI36
NG_029184.1:g.5233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.207del MANE Select	ENSP00000220058.4:p.Arg70GlyfsTer8
ENST00000220058.8:c.207del	ENSP00000220058.4:p.Arg70GlyfsTer8
ENST00000543678.1:c.207del	ENSP00000443754.1:p.Arg70GlyfsTer8
ENST00000558460.5:c.207del	ENSP00000452646.1:p.Arg70GlyfsTer8
ENST00000558614.1:n.168del
ENST00000559633.1:n.126del
ENST00000560717.5:c.192del	ENSP00000457257.1:p.Arg65GlyfsTer8
NM_139242.3:c.207del	NP_640335.2:p.Arg70GlyfsTer8
XM_005254158.5:c.207del	XP_005254215.2:p.Arg70GlyfsTer?
XR_001751081.1:n.222del
NM_139242.4:c.207del MANE Select	NP_640335.2:p.Arg70GlyfsTer8