Canonical Allele Identifier: CA2792412773
Gene: FERMT3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220292_64220314del , CM000673.2:g.64220292_64220314del GRCh38
NC_000011.9:g.63987764_63987786del , CM000673.1:g.63987764_63987786del GRCh37
NC_000011.8:g.63744340_63744362del NCBI36
NG_016360.1:g.18613_18635del , LRG_180:g.18613_18635del

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1289_1311del ENSP00000279227.5:p.Glu430AlafsTer5
ENST00000540554.2:n.2346_2368del
ENST00000541252.2:c.737_759del ENSP00000438885.2:p.Glu246AlafsTer5
ENST00000541326.6:n.589_611del
ENST00000544997.6:c.1277_1299del ENSP00000445778.2:p.Glu426AlafsTer5
ENST00000546255.2:n.1472_1494del
ENST00000698845.1:c.*472_*494del ENSP00000513981.1:n.*472_*494del
ENST00000698846.1:n.1414_1436del
ENST00000698847.1:c.*682_*704del ENSP00000513982.1:n.*682_*704del
ENST00000698848.1:n.466_488del
ENST00000698849.1:n.397_419del
ENST00000698850.1:n.936_958del
ENST00000698852.1:c.1277_1299del ENSP00000513984.1:p.Glu426AlafsTer5
ENST00000698853.1:c.*506_*528del ENSP00000513985.1:n.*506_*528del
ENST00000698854.1:c.*607_*629del ENSP00000513986.1:n.*607_*629del
ENST00000698855.1:n.2929_2951del
ENST00000698856.1:n.2514_2536del
ENST00000698859.1:n.1441_1463del
ENST00000698860.1:c.1289_1311del ENSP00000513988.1:p.Glu430AlafsTer5
ENST00000698861.1:c.1277_1299del ENSP00000513989.1:p.Glu426AlafsTer5
ENST00000698862.1:c.*573_*595del ENSP00000513990.1:n.*573_*595del
ENST00000698863.1:c.1277_1299del ENSP00000513991.1:p.Glu426AlafsTer5
ENST00000698864.1:n.1383_1405del
ENST00000698865.1:c.1298_1320del ENSP00000513992.1:p.Glu433AlafsTer5
ENST00000698866.1:c.*682_*704del ENSP00000513993.1:n.*682_*704del
ENST00000698867.1:n.5252_5274del
ENST00000698868.1:c.1142_1164del ENSP00000513994.1:p.Glu381AlafsTer5
ENST00000698869.1:c.1277_1299del ENSP00000513995.1:p.Glu426AlafsTer?
ENST00000698870.1:c.1277_1299del ENSP00000513996.1:p.Glu426AlafsTer5
ENST00000698871.1:n.1800_1822del
ENST00000698872.1:c.*66_*88del ENSP00000513997.1:n.*66_*88del
ENST00000698873.1:c.*472_*494del ENSP00000513998.1:n.*472_*494del
ENST00000698874.1:c.737_759del ENSP00000513999.1:p.Glu246AlafsTer5
ENST00000698875.1:n.1137_1159del
ENST00000698876.1:n.1216_1238del
ENST00000698877.1:n.845_867del
ENST00000698878.1:c.1277_1299del ENSP00000514000.1:p.Glu426AlafsTer?
ENST00000698880.1:c.1117_1139del
ENST00000345728.10:c.1277_1299del MANE Select ENSP00000339950.5:p.Glu426AlafsTer5
ENST00000279227.9:c.1289_1311del ENSP00000279227.5:p.Glu430AlafsTer5
ENST00000345728.9:c.1277_1299del ENSP00000339950.5:p.Glu426AlafsTer5
ENST00000540957.1:n.430_452del
ENST00000541326.5:n.584_606del
NM_031471.5:c.1277_1299del NP_113659.3:p.Glu426AlafsTer5
NM_178443.2:c.1289_1311del , LRG_180t1:c.1289_1311del NP_848537.1:p.Glu430AlafsTer5
XM_011545294.1:c.1289_1311del XP_011543596.1:p.Glu430AlafsTer5
XM_011545295.1:c.749_771del XP_011543597.1:p.Glu250AlafsTer5
XM_011545296.1:c.749_771del XP_011543598.1:p.Glu250AlafsTer5
XM_011545294.3:c.1289_1311del XP_011543596.1:p.Glu430AlafsTer5
XM_011545295.2:c.749_771del XP_011543597.1:p.Glu250AlafsTer5
XM_017018398.2:c.1277_1299del XP_016873887.1:p.Glu426AlafsTer5
XM_017018399.1:c.737_759del XP_016873888.1:p.Glu246AlafsTer5
NM_031471.6:c.1277_1299del MANE Select NP_113659.3:p.Glu426AlafsTer5
NM_001382361.1:c.1277_1299del NP_001369290.1:p.Glu426AlafsTer5
NM_001382362.1:c.1289_1311del NP_001369291.1:p.Glu430AlafsTer5
NM_001382363.1:c.737_759del NP_001369292.1:p.Glu246AlafsTer5
NM_001382364.1:c.749_771del NP_001369293.1:p.Glu250AlafsTer5
NM_001382448.1:c.1277_1299del NP_001369377.1:p.Glu426AlafsTer5
NM_178443.3:c.1289_1311del NP_848537.1:p.Glu430AlafsTer5