Canonical Allele Identifier: CA2628983366

Gene: MTFMT

Linked Data

• gnomAD v4: 15-65029416-CAGCGCCCGCAGCGCCTCGCGGGCGAACTGGTCCGTGCCGAAGAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029420_65029464del , CM000677.2:g.65029420_65029464del	GRCh38
NC_000015.9:g.65321758_65321802del , CM000677.1:g.65321758_65321802del	GRCh37
NC_000015.8:g.63108811_63108855del	NCBI36
NG_029184.1:g.5179_5223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.153_197del MANE Select	ENSP00000220058.4:p.Phe52_Leu66del
ENST00000220058.8:c.153_197del	ENSP00000220058.4:p.Phe52_Leu66del
ENST00000543678.1:c.153_197del	ENSP00000443754.1:p.Phe52_Leu66del
ENST00000558460.5:c.153_197del	ENSP00000452646.1:p.Phe52_Leu66del
ENST00000558614.1:n.114_158del
ENST00000559633.1:n.72_116del
ENST00000560717.5:c.138_182del	ENSP00000457257.1:p.Phe47_Leu61del
NM_139242.3:c.153_197del	NP_640335.2:p.Phe52_Leu66del
XM_005254158.5:c.153_197del	XP_005254215.2:p.Phe52_Leu66del
XR_001751081.1:n.168_212del
NM_139242.4:c.153_197del MANE Select	NP_640335.2:p.Phe52_Leu66del