Canonical Allele Identifier: CA1978638472

Gene: FERMT3

Linked Data

• dbSNP Id: rs1946648570

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64220222_64220234del , CM000673.2:g.64220222_64220234del	GRCh38
NC_000011.9:g.63987694_63987706del , CM000673.1:g.63987694_63987706del	GRCh37
NC_000011.8:g.63744270_63744282del	NCBI36
NG_016360.1:g.18543_18555del , LRG_180:g.18543_18555del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1219_1231del	ENSP00000279227.5:p.Cys407ProfsTer15
ENST00000540554.2:n.2276_2288del
ENST00000541252.2:c.667_679del	ENSP00000438885.2:p.Cys223ProfsTer15
ENST00000541326.6:n.519_531del
ENST00000544997.6:c.1207_1219del	ENSP00000445778.2:p.Cys403ProfsTer15
ENST00000546255.2:n.1402_1414del
ENST00000698845.1:c.*402_*414del	ENSP00000513981.1:n.*402_*414del
ENST00000698846.1:n.1344_1356del
ENST00000698847.1:c.*612_*624del	ENSP00000513982.1:n.*612_*624del
ENST00000698848.1:n.396_408del
ENST00000698849.1:n.327_339del
ENST00000698850.1:n.866_878del
ENST00000698852.1:c.1207_1219del	ENSP00000513984.1:p.Cys403ProfsTer15
ENST00000698853.1:c.*436_*448del	ENSP00000513985.1:n.*436_*448del
ENST00000698854.1:c.*537_*549del	ENSP00000513986.1:n.*537_*549del
ENST00000698855.1:n.2859_2871del
ENST00000698856.1:n.2444_2456del
ENST00000698859.1:n.1371_1383del
ENST00000698860.1:c.1219_1231del	ENSP00000513988.1:p.Cys407ProfsTer15
ENST00000698861.1:c.1207_1219del	ENSP00000513989.1:p.Cys403ProfsTer15
ENST00000698862.1:c.*503_*515del	ENSP00000513990.1:n.*503_*515del
ENST00000698863.1:c.1207_1219del	ENSP00000513991.1:p.Cys403ProfsTer15
ENST00000698864.1:n.1313_1325del
ENST00000698865.1:c.1228_1240del	ENSP00000513992.1:p.Cys410ProfsTer15
ENST00000698866.1:c.*612_*624del	ENSP00000513993.1:n.*612_*624del
ENST00000698867.1:n.5182_5194del
ENST00000698868.1:c.1072_1084del	ENSP00000513994.1:p.Cys358ProfsTer15
ENST00000698869.1:c.1207_1219del	ENSP00000513995.1:p.Cys403ProfsTer15
ENST00000698870.1:c.1207_1219del	ENSP00000513996.1:p.Cys403ProfsTer15
ENST00000698871.1:n.1730_1742del
ENST00000698872.1:c.662_*8del	ENSP00000513997.1:n.[c.662_*8del;Leu221ProfsTer?]
ENST00000698873.1:c.*402_*414del	ENSP00000513998.1:n.*402_*414del
ENST00000698874.1:c.667_679del	ENSP00000513999.1:p.Cys223ProfsTer15
ENST00000698875.1:n.1067_1079del
ENST00000698876.1:n.1146_1158del
ENST00000698877.1:n.775_787del
ENST00000698878.1:c.1207_1219del	ENSP00000514000.1:p.Cys403ProfsTer15
ENST00000698880.1:c.1047_1059del
ENST00000345728.10:c.1207_1219del MANE Select	ENSP00000339950.5:p.Cys403ProfsTer15
ENST00000279227.9:c.1219_1231del	ENSP00000279227.5:p.Cys407ProfsTer15
ENST00000345728.9:c.1207_1219del	ENSP00000339950.5:p.Cys403ProfsTer15
ENST00000540957.1:n.360_372del
ENST00000541326.5:n.514_526del
NM_031471.5:c.1207_1219del	NP_113659.3:p.Cys403ProfsTer15
NM_178443.2:c.1219_1231del , LRG_180t1:c.1219_1231del	NP_848537.1:p.Cys407ProfsTer15
XM_011545294.1:c.1219_1231del	XP_011543596.1:p.Cys407ProfsTer15
XM_011545295.1:c.679_691del	XP_011543597.1:p.Cys227ProfsTer15
XM_011545296.1:c.679_691del	XP_011543598.1:p.Cys227ProfsTer15
XM_011545294.3:c.1219_1231del	XP_011543596.1:p.Cys407ProfsTer15
XM_011545295.2:c.679_691del	XP_011543597.1:p.Cys227ProfsTer15
XM_017018398.2:c.1207_1219del	XP_016873887.1:p.Cys403ProfsTer15
XM_017018399.1:c.667_679del	XP_016873888.1:p.Cys223ProfsTer15
NM_031471.6:c.1207_1219del MANE Select	NP_113659.3:p.Cys403ProfsTer15
NM_001382361.1:c.1207_1219del	NP_001369290.1:p.Cys403ProfsTer15
NM_001382362.1:c.1219_1231del	NP_001369291.1:p.Cys407ProfsTer15
NM_001382363.1:c.667_679del	NP_001369292.1:p.Cys223ProfsTer15
NM_001382364.1:c.679_691del	NP_001369293.1:p.Cys227ProfsTer15
NM_001382448.1:c.1207_1219del	NP_001369377.1:p.Cys403ProfsTer15
NM_178443.3:c.1219_1231del	NP_848537.1:p.Cys407ProfsTer15