Canonical Allele Identifier: CA1978638466

Gene: FERMT3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220220_64220233delinsGCTGTGAGGTGGTT , CM000673.2:g.64220220_64220233delinsGCTGTGAGGTGGTT	GRCh38
NC_000011.9:g.63987692_63987705delinsGCTGTGAGGTGGTT , CM000673.1:g.63987692_63987705delinsGCTGTGAGGTGGTT	GRCh37
NC_000011.8:g.63744268_63744281delinsGCTGTGAGGTGGTT	NCBI36
NG_016360.1:g.18541_18554delinsGCTGTGAGGTGGTT , LRG_180:g.18541_18554delinsGCTGTGAGGTGGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1217_1230delinsGCTGTGAGGTGGTT	ENSP00000279227.5:p.Gly406=
ENST00000540554.2:n.2274_2287delinsGCTGTGAGGTGGTT
ENST00000541252.2:c.665_678delinsGCTGTGAGGTGGTT	ENSP00000438885.2:p.Gly222=
ENST00000541326.6:n.517_530delinsGCTGTGAGGTGGTT
ENST00000544997.6:c.1205_1218delinsGCTGTGAGGTGGTT	ENSP00000445778.2:p.Gly402=
ENST00000546255.2:n.1400_1413delinsGCTGTGAGGTGGTT
ENST00000698845.1:c.*400_*413delinsGCTGTGAGGTGGTT	ENSP00000513981.1:n.*400_*413delinsGCTGTGAGGTGGTT
ENST00000698846.1:n.1342_1355delinsGCTGTGAGGTGGTT
ENST00000698847.1:c.*610_*623delinsGCTGTGAGGTGGTT	ENSP00000513982.1:n.*610_*623delinsGCTGTGAGGTGGTT
ENST00000698848.1:n.394_407delinsGCTGTGAGGTGGTT
ENST00000698849.1:n.325_338delinsGCTGTGAGGTGGTT
ENST00000698850.1:n.864_877delinsGCTGTGAGGTGGTT
ENST00000698852.1:c.1205_1218delinsGCTGTGAGGTGGTT	ENSP00000513984.1:p.Gly402=
ENST00000698853.1:c.*434_*447delinsGCTGTGAGGTGGTT	ENSP00000513985.1:n.*434_*447delinsGCTGTGAGGTGGTT
ENST00000698854.1:c.*535_*548delinsGCTGTGAGGTGGTT	ENSP00000513986.1:n.*535_*548delinsGCTGTGAGGTGGTT
ENST00000698855.1:n.2857_2870delinsGCTGTGAGGTGGTT
ENST00000698856.1:n.2442_2455delinsGCTGTGAGGTGGTT
ENST00000698859.1:n.1369_1382delinsGCTGTGAGGTGGTT
ENST00000698860.1:c.1217_1230delinsGCTGTGAGGTGGTT	ENSP00000513988.1:p.Gly406=
ENST00000698861.1:c.1205_1218delinsGCTGTGAGGTGGTT	ENSP00000513989.1:p.Gly402=
ENST00000698862.1:c.*501_*514delinsGCTGTGAGGTGGTT	ENSP00000513990.1:n.*501_*514delinsGCTGTGAGGTGGTT
ENST00000698863.1:c.1205_1218delinsGCTGTGAGGTGGTT	ENSP00000513991.1:p.Gly402=
ENST00000698864.1:n.1311_1324delinsGCTGTGAGGTGGTT
ENST00000698865.1:c.1226_1239delinsGCTGTGAGGTGGTT	ENSP00000513992.1:p.Gly409=
ENST00000698866.1:c.*610_*623delinsGCTGTGAGGTGGTT	ENSP00000513993.1:n.*610_*623delinsGCTGTGAGGTGGTT
ENST00000698867.1:n.5180_5193delinsGCTGTGAGGTGGTT
ENST00000698868.1:c.1070_1083delinsGCTGTGAGGTGGTT	ENSP00000513994.1:p.Gly357=
ENST00000698869.1:c.1205_1218delinsGCTGTGAGGTGGTT	ENSP00000513995.1:p.Gly402=
ENST00000698870.1:c.1205_1218delinsGCTGTGAGGTGGTT	ENSP00000513996.1:p.Gly402=
ENST00000698871.1:n.1728_1741delinsGCTGTGAGGTGGTT
ENST00000698872.1:c.660_*7delinsGCTGTGAGGTGGTT	ENSP00000513997.1:n.[c.660_*7delinsGCTGTGAGGTGGTT;Gly220=]
ENST00000698873.1:c.*400_*413delinsGCTGTGAGGTGGTT	ENSP00000513998.1:n.*400_*413delinsGCTGTGAGGTGGTT
ENST00000698874.1:c.665_678delinsGCTGTGAGGTGGTT	ENSP00000513999.1:p.Gly222=
ENST00000698875.1:n.1065_1078delinsGCTGTGAGGTGGTT
ENST00000698876.1:n.1144_1157delinsGCTGTGAGGTGGTT
ENST00000698877.1:n.773_786delinsGCTGTGAGGTGGTT
ENST00000698878.1:c.1205_1218delinsGCTGTGAGGTGGTT	ENSP00000514000.1:p.Gly402=
ENST00000698880.1:c.1045_1058delinsGCTGTGAGGTGGTT
ENST00000345728.10:c.1205_1218delinsGCTGTGAGGTGGTT MANE Select	ENSP00000339950.5:p.Gly402=
ENST00000279227.9:c.1217_1230delinsGCTGTGAGGTGGTT	ENSP00000279227.5:p.Gly406=
ENST00000345728.9:c.1205_1218delinsGCTGTGAGGTGGTT	ENSP00000339950.5:p.Gly402=
ENST00000540957.1:n.358_371delinsGCTGTGAGGTGGTT
ENST00000541326.5:n.512_525delinsGCTGTGAGGTGGTT
NM_031471.5:c.1205_1218delinsGCTGTGAGGTGGTT	NP_113659.3:p.Gly402=
NM_178443.2:c.1217_1230delinsGCTGTGAGGTGGTT , LRG_180t1:c.1217_1230delinsGCTGTGAGGTGGTT	NP_848537.1:p.Gly406=
XM_011545294.1:c.1217_1230delinsGCTGTGAGGTGGTT	XP_011543596.1:p.Gly406=
XM_011545295.1:c.677_690delinsGCTGTGAGGTGGTT	XP_011543597.1:p.Gly226=
XM_011545296.1:c.677_690delinsGCTGTGAGGTGGTT	XP_011543598.1:p.Gly226=
XM_011545294.3:c.1217_1230delinsGCTGTGAGGTGGTT	XP_011543596.1:p.Gly406=
XM_011545295.2:c.677_690delinsGCTGTGAGGTGGTT	XP_011543597.1:p.Gly226=
XM_017018398.2:c.1205_1218delinsGCTGTGAGGTGGTT	XP_016873887.1:p.Gly402=
XM_017018399.1:c.665_678delinsGCTGTGAGGTGGTT	XP_016873888.1:p.Gly222=
NM_031471.6:c.1205_1218delinsGCTGTGAGGTGGTT MANE Select	NP_113659.3:p.Gly402=
NM_001382361.1:c.1205_1218delinsGCTGTGAGGTGGTT	NP_001369290.1:p.Gly402=
NM_001382362.1:c.1217_1230delinsGCTGTGAGGTGGTT	NP_001369291.1:p.Gly406=
NM_001382363.1:c.665_678delinsGCTGTGAGGTGGTT	NP_001369292.1:p.Gly222=
NM_001382364.1:c.677_690delinsGCTGTGAGGTGGTT	NP_001369293.1:p.Gly226=
NM_001382448.1:c.1205_1218delinsGCTGTGAGGTGGTT	NP_001369377.1:p.Gly402=
NM_178443.3:c.1217_1230delinsGCTGTGAGGTGGTT	NP_848537.1:p.Gly406=