Canonical Allele Identifier: CA2628983365

Gene: MTFMT

Linked Data

• gnomAD v4: 15-65029414-TGCAGCGCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029423_65029431del , CM000677.2:g.65029423_65029431del	GRCh38
NC_000015.9:g.65321761_65321769del , CM000677.1:g.65321761_65321769del	GRCh37
NC_000015.8:g.63108814_63108822del	NCBI36
NG_029184.1:g.5217_5225del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.191_199del MANE Select	ENSP00000220058.4:p.Arg64_Leu66del
ENST00000220058.8:c.191_199del	ENSP00000220058.4:p.Arg64_Leu66del
ENST00000543678.1:c.191_199del	ENSP00000443754.1:p.Arg64_Leu66del
ENST00000558460.5:c.191_199del	ENSP00000452646.1:p.Arg64_Leu66del
ENST00000558614.1:n.152_160del
ENST00000559633.1:n.110_118del
ENST00000560717.5:c.176_184del	ENSP00000457257.1:p.Arg59_Leu61del
NM_139242.3:c.191_199del	NP_640335.2:p.Arg64_Leu66del
XM_005254158.5:c.191_199del	XP_005254215.2:p.Arg64_Leu66del
XR_001751081.1:n.206_214del
NM_139242.4:c.191_199del MANE Select	NP_640335.2:p.Arg64_Leu66del