Canonical Allele Identifier: CA2628983371

Gene: MTFMT

Linked Data

• gnomAD v4: 15-65029469-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029471del , CM000677.2:g.65029471del	GRCh38
NC_000015.9:g.65321809del , CM000677.1:g.65321809del	GRCh37
NC_000015.8:g.63108862del	NCBI36
NG_029184.1:g.5170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.144del MANE Select	ENSP00000220058.4:p.Trp48CysfsTer30
ENST00000220058.8:c.144del	ENSP00000220058.4:p.Trp48CysfsTer30
ENST00000543678.1:c.144del	ENSP00000443754.1:p.Trp48CysfsTer30
ENST00000558460.5:c.144del	ENSP00000452646.1:p.Trp48CysfsTer30
ENST00000558614.1:n.105del
ENST00000559633.1:n.63del
ENST00000560717.5:c.129del	ENSP00000457257.1:p.Trp43CysfsTer30
NM_139242.3:c.144del	NP_640335.2:p.Trp48CysfsTer30
XM_005254158.5:c.144del	XP_005254215.2:p.Trp48CysfsTer?
XR_001751081.1:n.159del
NM_139242.4:c.144del MANE Select	NP_640335.2:p.Trp48CysfsTer30