Canonical Allele Identifier: CA599800787

Gene: FERMT3

Linked Data

• dbSNP Id: rs1239562060
• gnomAD v2: 11-63987816-A-AGGGGCC
• gnomAD v4: 11-64220344-A-AGGGGCC
• MyVariant Identifiers: chr11:g.63987816_63987817insGGGGCC (hg19) ; chr11:g.64220344_64220345insGGGGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220345_64220350dup , CM000673.2:g.64220345_64220350dup	GRCh38
NC_000011.9:g.63987817_63987822dup , CM000673.1:g.63987817_63987822dup	GRCh37
NC_000011.8:g.63744393_63744398dup	NCBI36
NG_016360.1:g.18666_18671dup , LRG_180:g.18666_18671dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1323+19_1323+24dup	ENSP00000279227.5:n.1323+19_1323+24dup
ENST00000540554.2:n.2399_2404dup
ENST00000541252.2:c.771+19_771+24dup	ENSP00000438885.2:n.771+19_771+24dup
ENST00000541326.6:n.642_647dup
ENST00000544997.6:c.1311+19_1311+24dup	ENSP00000445778.2:n.1311+19_1311+24dup
ENST00000546255.2:n.1525_1530dup
ENST00000698845.1:c.*506+19_*506+24dup	ENSP00000513981.1:n.*506+19_*506+24dup
ENST00000698846.1:n.1467_1472dup
ENST00000698847.1:c.*716+19_*716+24dup	ENSP00000513982.1:n.*716+19_*716+24dup
ENST00000698848.1:n.519_524dup
ENST00000698849.1:n.431+19_431+24dup
ENST00000698850.1:n.989_994dup
ENST00000698852.1:c.1311+19_1311+24dup	ENSP00000513984.1:n.1311+19_1311+24dup
ENST00000698853.1:c.*540+19_*540+24dup	ENSP00000513985.1:n.*540+19_*540+24dup
ENST00000698854.1:c.*641+19_*641+24dup	ENSP00000513986.1:n.*641+19_*641+24dup
ENST00000698855.1:n.2963+19_2963+24dup
ENST00000698856.1:n.2567_2572dup
ENST00000698859.1:n.1475+19_1475+24dup
ENST00000698860.1:c.1323+19_1323+24dup	ENSP00000513988.1:n.1323+19_1323+24dup
ENST00000698861.1:c.1311+19_1311+24dup	ENSP00000513989.1:n.1311+19_1311+24dup
ENST00000698862.1:c.*607+19_*607+24dup	ENSP00000513990.1:n.*607+19_*607+24dup
ENST00000698863.1:c.1311+19_1311+24dup	ENSP00000513991.1:n.1311+19_1311+24dup
ENST00000698864.1:n.1436_1441dup
ENST00000698865.1:c.1332+19_1332+24dup	ENSP00000513992.1:n.1332+19_1332+24dup
ENST00000698866.1:c.*735_*740dup	ENSP00000513993.1:n.*735_*740dup
ENST00000698867.1:n.5286+19_5286+24dup
ENST00000698868.1:c.1176+19_1176+24dup	ENSP00000513994.1:n.1176+19_1176+24dup
ENST00000698869.1:c.1311+19_1311+24dup	ENSP00000513995.1:n.1311+19_1311+24dup
ENST00000698870.1:c.1311+19_1311+24dup	ENSP00000513996.1:n.1311+19_1311+24dup
ENST00000698871.1:n.1834+19_1834+24dup
ENST00000698872.1:c.*100+19_*100+24dup	ENSP00000513997.1:n.*100+19_*100+24dup
ENST00000698873.1:c.*506+19_*506+24dup	ENSP00000513998.1:n.*506+19_*506+24dup
ENST00000698874.1:c.771+19_771+24dup	ENSP00000513999.1:n.771+19_771+24dup
ENST00000698875.1:n.1171+19_1171+24dup
ENST00000698876.1:n.1269_1274dup
ENST00000698877.1:n.879+19_879+24dup
ENST00000698878.1:c.1311+19_1311+24dup	ENSP00000514000.1:n.1311+19_1311+24dup
ENST00000698880.1:c.1151+19_1151+24dup
ENST00000345728.10:c.1311+19_1311+24dup MANE Select	ENSP00000339950.5:n.1311+19_1311+24dup
ENST00000279227.9:c.1323+19_1323+24dup	ENSP00000279227.5:n.1323+19_1323+24dup
ENST00000345728.9:c.1311+19_1311+24dup	ENSP00000339950.5:n.1311+19_1311+24dup
ENST00000540957.1:n.483_488dup
ENST00000541326.5:n.637_642dup
NM_031471.5:c.1311+19_1311+24dup	NP_113659.3:n.1311+19_1311+24dup
NM_178443.2:c.1323+19_1323+24dup , LRG_180t1:c.1323+19_1323+24dup	NP_848537.1:n.1323+19_1323+24dup
XM_011545294.1:c.1323+19_1323+24dup	XP_011543596.1:n.1323+19_1323+24dup
XM_011545295.1:c.783+19_783+24dup	XP_011543597.1:n.783+19_783+24dup
XM_011545296.1:c.783+19_783+24dup	XP_011543598.1:n.783+19_783+24dup
XM_011545294.3:c.1323+19_1323+24dup	XP_011543596.1:n.1323+19_1323+24dup
XM_011545295.2:c.783+19_783+24dup	XP_011543597.1:n.783+19_783+24dup
XM_017018398.2:c.1311+19_1311+24dup	XP_016873887.1:n.1311+19_1311+24dup
XM_017018399.1:c.771+19_771+24dup	XP_016873888.1:n.771+19_771+24dup
NM_031471.6:c.1311+19_1311+24dup MANE Select	NP_113659.3:n.1311+19_1311+24dup
NM_001382361.1:c.1311+19_1311+24dup	NP_001369290.1:n.1311+19_1311+24dup
NM_001382362.1:c.1323+19_1323+24dup	NP_001369291.1:n.1323+19_1323+24dup
NM_001382363.1:c.771+19_771+24dup	NP_001369292.1:n.771+19_771+24dup
NM_001382364.1:c.783+19_783+24dup	NP_001369293.1:n.783+19_783+24dup
NM_001382448.1:c.1311+19_1311+24dup	NP_001369377.1:n.1311+19_1311+24dup
NM_178443.3:c.1323+19_1323+24dup	NP_848537.1:n.1323+19_1323+24dup