Canonical Allele Identifier: CA2628983392
Gene: MTFMT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65029627_65029637del , CM000677.2:g.65029627_65029637del GRCh38
NC_000015.9:g.65321965_65321975del , CM000677.1:g.65321965_65321975del GRCh37
NC_000015.8:g.63109018_63109028del NCBI36
NG_029184.1:g.5006_5016del

Transcript Alleles

HGVS Amino-acid Change
ENST00000220058.9:c.-21_-11del MANE Select ENSP00000220058.4:n.-21_-11del
ENST00000543678.1:c.-21_-11del ENSP00000443754.1:n.-21_-11del
NM_139242.3:c.-21_-11del NP_640335.2:n.-21_-11del
NM_139242.4:c.-21_-11del MANE Select NP_640335.2:n.-21_-11del