Canonical Allele Identifier: CA618956762

Gene: MTFMT

Linked Data

• dbSNP Id: rs1199233898
• gnomAD v2: 15-65321723-CGGATCCCTGGCCCGGGTACCT-C
• MyVariant Identifiers: chr15:g.65321724_65321744del (hg19) ; chr15:g.65029386_65029406del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65029388_65029408del , CM000677.2:g.65029388_65029408del	GRCh38
NC_000015.9:g.65321726_65321746del , CM000677.1:g.65321726_65321746del	GRCh37
NC_000015.8:g.63108779_63108799del	NCBI36
NG_029184.1:g.5234_5254del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220058.9:c.208_209+19del
ENST00000220058.8:c.208_209+19del
ENST00000543678.1:c.208_209+19del
ENST00000558460.5:c.208_209+19del
ENST00000558614.1:n.169_170+19del
ENST00000559633.1:n.127_128+19del
ENST00000560717.5:c.193_194+19del
NM_139242.3:c.208_209+19del
XM_005254158.5:c.208_228del	XP_005254215.2:p.Arg70_Ser76del
XR_001751081.1:n.223_243del
NM_139242.4:c.208_209+19del