Canonical Allele Identifier: CA618629893

Gene: MTFMT

Linked Data

• dbSNP Id: rs1490239884
• gnomAD v2: 15-65321608-CG-C
• gnomAD v3: 15-65029270-CG-C
• gnomAD v4: 15-65029270-CG-C
• MyVariant Identifiers: chr15:g.65321609del (hg19) ; chr15:g.65029271del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029271del , CM000677.2:g.65029271del	GRCh38
NC_000015.9:g.65321609del , CM000677.1:g.65321609del	GRCh37
NC_000015.8:g.63108662del	NCBI36
NG_029184.1:g.5369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.209+134del MANE Select	ENSP00000220058.4:n.209+134del
ENST00000220058.8:c.209+134del	ENSP00000220058.4:n.209+134del
ENST00000543678.1:c.209+134del	ENSP00000443754.1:n.209+134del
ENST00000558460.5:c.209+134del	ENSP00000452646.1:n.209+134del
ENST00000558614.1:n.170+134del
ENST00000559633.1:n.128+134del
ENST00000560717.5:c.194+134del	ENSP00000457257.1:n.194+134del
NM_139242.3:c.209+134del	NP_640335.2:n.209+134del
XM_005254158.3:c.-66del	XP_005254215.1:n.-66del
XM_005254158.5:c.343del	XP_005254215.2:p.Arg115ValfsTer14
XR_001751081.1:n.358del
NM_139242.4:c.209+134del MANE Select	NP_640335.2:n.209+134del