Canonical Allele Identifier: CA6069135
Gene: FERMT3 HGNC NCBI

Linked Data

dbSNP Id: rs750938954

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64220462_64220471del , CM000673.2:g.64220462_64220471del GRCh38
NC_000011.9:g.63987934_63987943del , CM000673.1:g.63987934_63987943del GRCh37
NC_000011.8:g.63744510_63744519del NCBI36
NG_016360.1:g.18783_18792del , LRG_180:g.18783_18792del

Transcript Alleles

HGVS Amino-acid Change
ENST00000279227.10:c.1350_1359del ENSP00000279227.5:p.Gly451TrpfsTer?
ENST00000540554.2:n.2516_2525del
ENST00000541252.2:c.798_807del ENSP00000438885.2:p.Gly267TrpfsTer?
ENST00000541326.6:n.759_768del
ENST00000544997.6:c.1338_1347del ENSP00000445778.2:p.Gly447TrpfsTer?
ENST00000545896.2:c.27_36del ENSP00000440209.2:p.Gly10TrpfsTer?
ENST00000546255.2:n.1642_1651del
ENST00000698845.1:c.*533_*542del ENSP00000513981.1:n.*533_*542del
ENST00000698846.1:n.1584_1593del
ENST00000698847.1:c.*743_*752del ENSP00000513982.1:n.*743_*752del
ENST00000698848.1:n.636_645del
ENST00000698849.1:n.458_467del
ENST00000698850.1:n.1106_1115del
ENST00000698852.1:c.1338_1347del ENSP00000513984.1:p.Gly447TrpfsTer?
ENST00000698853.1:c.*567_*576del ENSP00000513985.1:n.*567_*576del
ENST00000698854.1:c.*668_*677del ENSP00000513986.1:n.*668_*677del
ENST00000698855.1:n.2990_2999del
ENST00000698856.1:n.2684_2693del
ENST00000698859.1:n.1502_1511del
ENST00000698860.1:c.1350_1359del ENSP00000513988.1:p.Gly451TrpfsTer?
ENST00000698861.1:c.1338_1347del ENSP00000513989.1:p.Gly447TrpfsTer?
ENST00000698862.1:c.*634_*643del ENSP00000513990.1:n.*634_*643del
ENST00000698863.1:c.1338_1347del ENSP00000513991.1:p.Gly447TrpfsTer?
ENST00000698864.1:n.1553_1562del
ENST00000698865.1:c.1359_1368del ENSP00000513992.1:p.Gly454TrpfsTer?
ENST00000698866.1:c.*852_*861del ENSP00000513993.1:n.*852_*861del
ENST00000698867.1:n.5313_5322del
ENST00000698868.1:c.1203_1212del ENSP00000513994.1:p.Gly402TrpfsTer?
ENST00000698869.1:c.1311+136_1311+145del ENSP00000513995.1:n.1311+136_1311+145del
ENST00000698870.1:c.1338_1347del ENSP00000513996.1:p.Gly447TrpfsTer?
ENST00000698871.1:n.1861_1870del
ENST00000698872.1:c.*127_*136del ENSP00000513997.1:n.*127_*136del
ENST00000698873.1:c.*533_*542del ENSP00000513998.1:n.*533_*542del
ENST00000698874.1:c.798_807del ENSP00000513999.1:p.Gly267TrpfsTer?
ENST00000698875.1:n.1198_1207del
ENST00000698876.1:n.1386_1395del
ENST00000698877.1:n.906_915del
ENST00000698878.1:c.1332_1341del ENSP00000514000.1:p.Gly445TrpfsTer?
ENST00000698880.1:c.1206_1215del
ENST00000345728.10:c.1338_1347del MANE Select ENSP00000339950.5:p.Gly447TrpfsTer?
ENST00000279227.9:c.1350_1359del ENSP00000279227.5:p.Gly451TrpfsTer?
ENST00000345728.9:c.1338_1347del ENSP00000339950.5:p.Gly447TrpfsTer?
ENST00000541326.5:n.754_763del
ENST00000545896.1:c.26_35del ENSP00000440209.1:p.Leu9ProfsTer?
NM_031471.5:c.1338_1347del NP_113659.3:p.Gly447TrpfsTer?
NM_178443.2:c.1350_1359del , LRG_180t1:c.1350_1359del NP_848537.1:p.Gly451TrpfsTer?
XM_011545294.1:c.1350_1359del XP_011543596.1:p.Gly451TrpfsTer?
XM_011545295.1:c.810_819del XP_011543597.1:p.Gly271TrpfsTer?
XM_011545296.1:c.810_819del XP_011543598.1:p.Gly271TrpfsTer?
XM_011545294.3:c.1350_1359del XP_011543596.1:p.Gly451TrpfsTer?
XM_011545295.2:c.810_819del XP_011543597.1:p.Gly271TrpfsTer?
XM_017018398.2:c.1338_1347del XP_016873887.1:p.Gly447TrpfsTer?
XM_017018399.1:c.798_807del XP_016873888.1:p.Gly267TrpfsTer?
NM_031471.6:c.1338_1347del MANE Select NP_113659.3:p.Gly447TrpfsTer?
NM_001382361.1:c.1338_1347del NP_001369290.1:p.Gly447TrpfsTer?
NM_001382362.1:c.1350_1359del NP_001369291.1:p.Gly451TrpfsTer?
NM_001382363.1:c.798_807del NP_001369292.1:p.Gly267TrpfsTer?
NM_001382364.1:c.810_819del NP_001369293.1:p.Gly271TrpfsTer?
NM_001382448.1:c.1338_1347del NP_001369377.1:p.Gly447TrpfsTer?
NM_178443.3:c.1350_1359del NP_848537.1:p.Gly451TrpfsTer?