Canonical Allele Identifier: CA2628983370

Gene: MTFMT

Linked Data

• gnomAD v4: 15-65029468-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029469del , CM000677.2:g.65029469del	GRCh38
NC_000015.9:g.65321807del , CM000677.1:g.65321807del	GRCh37
NC_000015.8:g.63108860del	NCBI36
NG_029184.1:g.5171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.145del MANE Select	ENSP00000220058.4:p.Arg49GlyfsTer29
ENST00000220058.8:c.145del	ENSP00000220058.4:p.Arg49GlyfsTer29
ENST00000543678.1:c.145del	ENSP00000443754.1:p.Arg49GlyfsTer29
ENST00000558460.5:c.145del	ENSP00000452646.1:p.Arg49GlyfsTer29
ENST00000558614.1:n.106del
ENST00000559633.1:n.64del
ENST00000560717.5:c.130del	ENSP00000457257.1:p.Arg44GlyfsTer29
NM_139242.3:c.145del	NP_640335.2:p.Arg49GlyfsTer29
XM_005254158.5:c.145del	XP_005254215.2:p.Arg49GlyfsTer?
XR_001751081.1:n.160del
NM_139242.4:c.145del MANE Select	NP_640335.2:p.Arg49GlyfsTer29