Canonical Allele Identifier: CA2614111082

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64220556-A-ACGGGCAGTGGGGGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220563_64220577dup , CM000673.2:g.64220563_64220577dup	GRCh38
NC_000011.9:g.63988035_63988049dup , CM000673.1:g.63988035_63988049dup	GRCh37
NC_000011.8:g.63744611_63744625dup	NCBI36
NG_016360.1:g.18884_18898dup , LRG_180:g.18884_18898dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000279227.10:c.1451_1465dup	ENSP00000279227.5:p.Gly488_Asn489insSerGl...
ENST00000540554.2:n.2617_2631dup
ENST00000541252.2:c.899_913dup	ENSP00000438885.2:p.Gly304_Asn305insSerGl...
ENST00000541326.6:n.860_874dup
ENST00000544997.6:c.1439_1453dup	ENSP00000445778.2:p.Gly484_Asn485insSerGl...
ENST00000545896.2:c.128_142dup	ENSP00000440209.2:p.Gly47_Asn48insSerGlyG...
ENST00000546255.2:n.1743_1757dup
ENST00000698845.1:c.*634_*648dup	ENSP00000513981.1:n.*634_*648dup
ENST00000698846.1:n.1685_1699dup
ENST00000698847.1:c.*844_*858dup	ENSP00000513982.1:n.*844_*858dup
ENST00000698849.1:n.559_573dup
ENST00000698850.1:n.1207_1221dup
ENST00000698852.1:c.1439_1453dup	ENSP00000513984.1:p.Gly484_Asn485insSerGl...
ENST00000698853.1:c.*668_*682dup	ENSP00000513985.1:n.*668_*682dup
ENST00000698854.1:c.*769_*783dup	ENSP00000513986.1:n.*769_*783dup
ENST00000698855.1:n.3091_3105dup
ENST00000698856.1:n.2785_2799dup
ENST00000698859.1:n.1603_1617dup
ENST00000698860.1:c.1451_1465dup	ENSP00000513988.1:p.Gly488_Asn489insSerGl...
ENST00000698861.1:c.1439_1453dup	ENSP00000513989.1:p.Gly484_Asn485insSerGl...
ENST00000698862.1:c.*735_*749dup	ENSP00000513990.1:n.*735_*749dup
ENST00000698863.1:c.1439_1453dup	ENSP00000513991.1:p.Gly484_Asn485insSerGl...
ENST00000698864.1:n.1654_1668dup
ENST00000698865.1:c.1460_1474dup	ENSP00000513992.1:p.Gly491_Asn492insSerGl...
ENST00000698866.1:c.*953_*967dup	ENSP00000513993.1:n.*953_*967dup
ENST00000698867.1:n.5414_5428dup
ENST00000698868.1:c.1304_1318dup	ENSP00000513994.1:p.Gly439_Asn440insSerGl...
ENST00000698869.1:c.1311+237_1311+251dup	ENSP00000513995.1:n.1311+237_1311+251dup
ENST00000698870.1:c.1439_1453dup	ENSP00000513996.1:p.Gly484_Asn485insSerGl...
ENST00000698871.1:n.1962_1976dup
ENST00000698872.1:c.*228_*242dup	ENSP00000513997.1:n.*228_*242dup
ENST00000698873.1:c.*634_*648dup	ENSP00000513998.1:n.*634_*648dup
ENST00000698874.1:c.899_913dup	ENSP00000513999.1:p.Gly304_Asn305insSerGl...
ENST00000698875.1:n.1299_1313dup
ENST00000698876.1:n.1487_1501dup
ENST00000698877.1:n.1007_1021dup
ENST00000698878.1:c.1433_1447dup	ENSP00000514000.1:p.Gly482_Asn483insSerGl...
ENST00000698880.1:c.1307_1321dup
ENST00000345728.10:c.1439_1453dup MANE Select	ENSP00000339950.5:p.Gly484_Asn485insSerGl...
ENST00000279227.9:c.1451_1465dup	ENSP00000279227.5:p.Gly488_Asn489insSerGl...
ENST00000345728.9:c.1439_1453dup	ENSP00000339950.5:p.Gly484_Asn485insSerGl...
ENST00000541326.5:n.855_869dup
ENST00000545896.1:c.127_141dup	ENSP00000440209.1:p.Ala47_Thr48insValGlyA...
NM_031471.5:c.1439_1453dup	NP_113659.3:p.Gly484_Asn485insSerGlyGlyPr...
NM_178443.2:c.1451_1465dup , LRG_180t1:c.1451_1465dup	NP_848537.1:p.Gly488_Asn489insSerGlyGlyPr...
XM_011545294.1:c.1451_1465dup	XP_011543596.1:p.Gly488_Asn489insSerGlyGl...
XM_011545295.1:c.911_925dup	XP_011543597.1:p.Gly308_Asn309insSerGlyGl...
XM_011545296.1:c.911_925dup	XP_011543598.1:p.Gly308_Asn309insSerGlyGl...
XM_011545294.3:c.1451_1465dup	XP_011543596.1:p.Gly488_Asn489insSerGlyGl...
XM_011545295.2:c.911_925dup	XP_011543597.1:p.Gly308_Asn309insSerGlyGl...
XM_017018398.2:c.1439_1453dup	XP_016873887.1:p.Gly484_Asn485insSerGlyGl...
XM_017018399.1:c.899_913dup	XP_016873888.1:p.Gly304_Asn305insSerGlyGl...
NM_031471.6:c.1439_1453dup MANE Select	NP_113659.3:p.Gly484_Asn485insSerGlyGlyPr...
NM_001382361.1:c.1439_1453dup	NP_001369290.1:p.Gly484_Asn485insSerGlyGl...
NM_001382362.1:c.1451_1465dup	NP_001369291.1:p.Gly488_Asn489insSerGlyGl...
NM_001382363.1:c.899_913dup	NP_001369292.1:p.Gly304_Asn305insSerGlyGl...
NM_001382364.1:c.911_925dup	NP_001369293.1:p.Gly308_Asn309insSerGlyGl...
NM_001382448.1:c.1439_1453dup	NP_001369377.1:p.Gly484_Asn485insSerGlyGl...
NM_178443.3:c.1451_1465dup	NP_848537.1:p.Gly488_Asn489insSerGlyGlyPr...