Canonical Allele Identifier: CA938812304

Gene: FERMT3

Linked Data

• dbSNP Id: rs1946650649
• gnomAD v3: 11-64220312-C-CT
• gnomAD v4: 11-64220312-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220313dup , CM000673.2:g.64220313dup	GRCh38
NC_000011.9:g.63987785dup , CM000673.1:g.63987785dup	GRCh37
NC_000011.8:g.63744361dup	NCBI36
NG_016360.1:g.18634dup , LRG_180:g.18634dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1310dup	ENSP00000279227.5:p.Arg438AlafsTer5
ENST00000540554.2:n.2367dup
ENST00000541252.2:c.758dup	ENSP00000438885.2:p.Arg254AlafsTer5
ENST00000541326.6:n.610dup
ENST00000544997.6:c.1298dup	ENSP00000445778.2:p.Arg434AlafsTer5
ENST00000546255.2:n.1493dup
ENST00000698845.1:c.*493dup	ENSP00000513981.1:n.*493dup
ENST00000698846.1:n.1435dup
ENST00000698847.1:c.*703dup	ENSP00000513982.1:n.*703dup
ENST00000698848.1:n.487dup
ENST00000698849.1:n.418dup
ENST00000698850.1:n.957dup
ENST00000698852.1:c.1298dup	ENSP00000513984.1:p.Arg434AlafsTer5
ENST00000698853.1:c.*527dup	ENSP00000513985.1:n.*527dup
ENST00000698854.1:c.*628dup	ENSP00000513986.1:n.*628dup
ENST00000698855.1:n.2950dup
ENST00000698856.1:n.2535dup
ENST00000698859.1:n.1462dup
ENST00000698860.1:c.1310dup	ENSP00000513988.1:p.Arg438AlafsTer5
ENST00000698861.1:c.1298dup	ENSP00000513989.1:p.Arg434AlafsTer5
ENST00000698862.1:c.*594dup	ENSP00000513990.1:n.*594dup
ENST00000698863.1:c.1298dup	ENSP00000513991.1:p.Arg434AlafsTer5
ENST00000698864.1:n.1404dup
ENST00000698865.1:c.1319dup	ENSP00000513992.1:p.Arg441AlafsTer5
ENST00000698866.1:c.*703dup	ENSP00000513993.1:n.*703dup
ENST00000698867.1:n.5273dup
ENST00000698868.1:c.1163dup	ENSP00000513994.1:p.Arg389AlafsTer5
ENST00000698869.1:c.1298dup	ENSP00000513995.1:p.Arg434AlafsTer?
ENST00000698870.1:c.1298dup	ENSP00000513996.1:p.Arg434AlafsTer5
ENST00000698871.1:n.1821dup
ENST00000698872.1:c.*87dup	ENSP00000513997.1:n.*87dup
ENST00000698873.1:c.*493dup	ENSP00000513998.1:n.*493dup
ENST00000698874.1:c.758dup	ENSP00000513999.1:p.Arg254AlafsTer5
ENST00000698875.1:n.1158dup
ENST00000698876.1:n.1237dup
ENST00000698877.1:n.866dup
ENST00000698878.1:c.1298dup	ENSP00000514000.1:p.Arg434AlafsTer?
ENST00000698880.1:c.1138dup
ENST00000345728.10:c.1298dup MANE Select	ENSP00000339950.5:p.Arg434AlafsTer5
ENST00000279227.9:c.1310dup	ENSP00000279227.5:p.Arg438AlafsTer5
ENST00000345728.9:c.1298dup	ENSP00000339950.5:p.Arg434AlafsTer5
ENST00000540957.1:n.451dup
ENST00000541326.5:n.605dup
NM_031471.5:c.1298dup	NP_113659.3:p.Arg434AlafsTer5
NM_178443.2:c.1310dup , LRG_180t1:c.1310dup	NP_848537.1:p.Arg438AlafsTer5
XM_011545294.1:c.1310dup	XP_011543596.1:p.Arg438AlafsTer5
XM_011545295.1:c.770dup	XP_011543597.1:p.Arg258AlafsTer5
XM_011545296.1:c.770dup	XP_011543598.1:p.Arg258AlafsTer5
XM_011545294.3:c.1310dup	XP_011543596.1:p.Arg438AlafsTer5
XM_011545295.2:c.770dup	XP_011543597.1:p.Arg258AlafsTer5
XM_017018398.2:c.1298dup	XP_016873887.1:p.Arg434AlafsTer5
XM_017018399.1:c.758dup	XP_016873888.1:p.Arg254AlafsTer5
NM_031471.6:c.1298dup MANE Select	NP_113659.3:p.Arg434AlafsTer5
NM_001382361.1:c.1298dup	NP_001369290.1:p.Arg434AlafsTer5
NM_001382362.1:c.1310dup	NP_001369291.1:p.Arg438AlafsTer5
NM_001382363.1:c.758dup	NP_001369292.1:p.Arg254AlafsTer5
NM_001382364.1:c.770dup	NP_001369293.1:p.Arg258AlafsTer5
NM_001382448.1:c.1298dup	NP_001369377.1:p.Arg434AlafsTer5
NM_178443.3:c.1310dup	NP_848537.1:p.Arg438AlafsTer5