Canonical Allele Identifier: CA2628983347

Gene: MTFMT

Linked Data

• gnomAD v4: 15-65029390-CCCTGGCCCGGGTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029397_65029409del , CM000677.2:g.65029397_65029409del	GRCh38
NC_000015.9:g.65321735_65321747del , CM000677.1:g.65321735_65321747del	GRCh37
NC_000015.8:g.63108788_63108800del	NCBI36
NG_029184.1:g.5237_5249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+2_209+14del
ENST00000220058.8:c.209+2_209+14del
ENST00000543678.1:c.209+2_209+14del
ENST00000558460.5:c.209+2_209+14del
ENST00000558614.1:n.170+2_170+14del
ENST00000559633.1:n.128+2_128+14del
ENST00000560717.5:c.194+2_194+14del
NM_139242.3:c.209+2_209+14del
XM_005254158.5:c.211_223del	XP_005254215.2:p.Tyr71AspfsTer?
XR_001751081.1:n.226_238del
NM_139242.4:c.209+2_209+14del