Canonical Allele Identifier: CA2183422911

Gene: MTFMT

Linked Data

• dbSNP Id: rs757162403
• gnomAD v4: 15-65029540-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029544del , CM000677.2:g.65029544del	GRCh38
NC_000015.9:g.65321882del , CM000677.1:g.65321882del	GRCh37
NC_000015.8:g.63108935del	NCBI36
NG_029184.1:g.5099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.73del MANE Select	ENSP00000220058.4:p.Gln25SerfsTer?
ENST00000220058.8:c.73del	ENSP00000220058.4:p.Gln25SerfsTer?
ENST00000543678.1:c.73del	ENSP00000443754.1:p.Gln25SerfsTer?
ENST00000558460.5:c.73del	ENSP00000452646.1:p.Gln25SerfsTer?
ENST00000558614.1:n.34del
ENST00000560717.5:c.58del	ENSP00000457257.1:p.Gln20SerfsTer?
NM_139242.3:c.73del	NP_640335.2:p.Gln25SerfsTer?
XM_005254158.5:c.73del	XP_005254215.2:p.Gln25SerfsTer?
XR_001751081.1:n.88del
NM_139242.4:c.73del MANE Select	NP_640335.2:p.Gln25SerfsTer?