Canonical Allele Identifier: CA2614111061

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220467-GCCGCCTGGCCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220469_64220480del , CM000673.2:g.64220469_64220480del	GRCh38
NC_000011.9:g.63987941_63987952del , CM000673.1:g.63987941_63987952del	GRCh37
NC_000011.8:g.63744517_63744528del	NCBI36
NG_016360.1:g.18790_18801del , LRG_180:g.18790_18801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1357_1368del	ENSP00000279227.5:p.Arg453_Ser456del
ENST00000540554.2:n.2523_2534del
ENST00000541252.2:c.805_816del	ENSP00000438885.2:p.Arg269_Ser272del
ENST00000541326.6:n.766_777del
ENST00000544997.6:c.1345_1356del	ENSP00000445778.2:p.Arg449_Ser452del
ENST00000545896.2:c.34_45del	ENSP00000440209.2:p.Arg12_Ser15del
ENST00000546255.2:n.1649_1660del
ENST00000698845.1:c.*540_*551del	ENSP00000513981.1:n.*540_*551del
ENST00000698846.1:n.1591_1602del
ENST00000698847.1:c.*750_*761del	ENSP00000513982.1:n.*750_*761del
ENST00000698848.1:n.643_654del
ENST00000698849.1:n.465_476del
ENST00000698850.1:n.1113_1124del
ENST00000698852.1:c.1345_1356del	ENSP00000513984.1:p.Arg449_Ser452del
ENST00000698853.1:c.*574_*585del	ENSP00000513985.1:n.*574_*585del
ENST00000698854.1:c.*675_*686del	ENSP00000513986.1:n.*675_*686del
ENST00000698855.1:n.2997_3008del
ENST00000698856.1:n.2691_2702del
ENST00000698859.1:n.1509_1520del
ENST00000698860.1:c.1357_1368del	ENSP00000513988.1:p.Arg453_Ser456del
ENST00000698861.1:c.1345_1356del	ENSP00000513989.1:p.Arg449_Ser452del
ENST00000698862.1:c.*641_*652del	ENSP00000513990.1:n.*641_*652del
ENST00000698863.1:c.1345_1356del	ENSP00000513991.1:p.Arg449_Ser452del
ENST00000698864.1:n.1560_1571del
ENST00000698865.1:c.1366_1377del	ENSP00000513992.1:p.Arg456_Ser459del
ENST00000698866.1:c.*859_*870del	ENSP00000513993.1:n.*859_*870del
ENST00000698867.1:n.5320_5331del
ENST00000698868.1:c.1210_1221del	ENSP00000513994.1:p.Arg404_Ser407del
ENST00000698869.1:c.1311+143_1311+154del	ENSP00000513995.1:n.1311+143_1311+154del
ENST00000698870.1:c.1345_1356del	ENSP00000513996.1:p.Arg449_Ser452del
ENST00000698871.1:n.1868_1879del
ENST00000698872.1:c.*134_*145del	ENSP00000513997.1:n.*134_*145del
ENST00000698873.1:c.*540_*551del	ENSP00000513998.1:n.*540_*551del
ENST00000698874.1:c.805_816del	ENSP00000513999.1:p.Arg269_Ser272del
ENST00000698875.1:n.1205_1216del
ENST00000698876.1:n.1393_1404del
ENST00000698877.1:n.913_924del
ENST00000698878.1:c.1339_1350del	ENSP00000514000.1:p.Arg447_Ser450del
ENST00000698880.1:c.1213_1224del
ENST00000345728.10:c.1345_1356del MANE Select	ENSP00000339950.5:p.Arg449_Ser452del
ENST00000279227.9:c.1357_1368del	ENSP00000279227.5:p.Arg453_Ser456del
ENST00000345728.9:c.1345_1356del	ENSP00000339950.5:p.Arg449_Ser452del
ENST00000541326.5:n.761_772del
ENST00000545896.1:c.33_44del	ENSP00000440209.1:p.Ala12_Pro15del
NM_031471.5:c.1345_1356del	NP_113659.3:p.Arg449_Ser452del
NM_178443.2:c.1357_1368del , LRG_180t1:c.1357_1368del	NP_848537.1:p.Arg453_Ser456del
XM_011545294.1:c.1357_1368del	XP_011543596.1:p.Arg453_Ser456del
XM_011545295.1:c.817_828del	XP_011543597.1:p.Arg273_Ser276del
XM_011545296.1:c.817_828del	XP_011543598.1:p.Arg273_Ser276del
XM_011545294.3:c.1357_1368del	XP_011543596.1:p.Arg453_Ser456del
XM_011545295.2:c.817_828del	XP_011543597.1:p.Arg273_Ser276del
XM_017018398.2:c.1345_1356del	XP_016873887.1:p.Arg449_Ser452del
XM_017018399.1:c.805_816del	XP_016873888.1:p.Arg269_Ser272del
NM_031471.6:c.1345_1356del MANE Select	NP_113659.3:p.Arg449_Ser452del
NM_001382361.1:c.1345_1356del	NP_001369290.1:p.Arg449_Ser452del
NM_001382362.1:c.1357_1368del	NP_001369291.1:p.Arg453_Ser456del
NM_001382363.1:c.805_816del	NP_001369292.1:p.Arg269_Ser272del
NM_001382364.1:c.817_828del	NP_001369293.1:p.Arg273_Ser276del
NM_001382448.1:c.1345_1356del	NP_001369377.1:p.Arg449_Ser452del
NM_178443.3:c.1357_1368del	NP_848537.1:p.Arg453_Ser456del