Canonical Allele Identifier: CA2628983376

Gene: MTFMT

Linked Data

• gnomAD v4: 15-65029541-GGGGACTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029544_65029550del , CM000677.2:g.65029544_65029550del	GRCh38
NC_000015.9:g.65321882_65321888del , CM000677.1:g.65321882_65321888del	GRCh37
NC_000015.8:g.63108935_63108941del	NCBI36
NG_029184.1:g.5092_5098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.66_72del MANE Select	ENSP00000220058.4:p.Pro24GlyfsTer?
ENST00000220058.8:c.66_72del	ENSP00000220058.4:p.Pro24GlyfsTer?
ENST00000543678.1:c.66_72del	ENSP00000443754.1:p.Pro24GlyfsTer?
ENST00000558460.5:c.66_72del	ENSP00000452646.1:p.Pro24GlyfsTer?
ENST00000558614.1:n.27_33del
ENST00000560717.5:c.51_57del	ENSP00000457257.1:p.Pro19GlyfsTer?
NM_139242.3:c.66_72del	NP_640335.2:p.Pro24GlyfsTer?
XM_005254158.5:c.66_72del	XP_005254215.2:p.Pro24GlyfsTer?
XR_001751081.1:n.81_87del
NM_139242.4:c.66_72del MANE Select	NP_640335.2:p.Pro24GlyfsTer?