Canonical Allele Identifier: CA2614111081

Gene: FERMT3

Linked Data

• gnomAD v4: 11-64211683-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64211683_64211684insA , CM000673.2:g.64211683_64211684insA	GRCh38
NC_000011.9:g.63979155_63979156insA , CM000673.1:g.63979155_63979156insA	GRCh37
NC_000011.8:g.63735731_63735732insA	NCBI36
NG_016360.1:g.10004_10005insA , LRG_180:g.10004_10005insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.722_723insA	ENSP00000279227.5:p.Lys242GlnfsTer?
ENST00000541252.2:c.182_183insA	ENSP00000438885.2:p.Lys62GlnfsTer?
ENST00000541326.6:n.39_40insA
ENST00000544997.6:c.722_723insA	ENSP00000445778.2:p.Lys242GlnfsTer?
ENST00000546255.2:n.816_817insA
ENST00000698845.1:c.722_723insA	ENSP00000513981.1:p.Lys242GlnfsTer?
ENST00000698846.1:n.859_860insA
ENST00000698847.1:c.*127_*128insA	ENSP00000513982.1:n.*127_*128insA
ENST00000698850.1:n.34_35insA
ENST00000698852.1:c.722_723insA	ENSP00000513984.1:p.Lys242GlnfsTer?
ENST00000698853.1:c.722_723insA	ENSP00000513985.1:p.Lys242GlnfsTer?
ENST00000698854.1:c.722_723insA	ENSP00000513986.1:p.Lys242GlnfsTer?
ENST00000698855.1:n.2374_2375insA
ENST00000698856.1:n.1642_1643insA
ENST00000698859.1:n.886_887insA
ENST00000698860.1:c.722_723insA	ENSP00000513988.1:p.Lys242GlnfsTer?
ENST00000698861.1:c.722_723insA	ENSP00000513989.1:p.Lys242GlnfsTer?
ENST00000698862.1:c.722_723insA	ENSP00000513990.1:p.Lys242GlnfsTer?
ENST00000698863.1:c.722_723insA	ENSP00000513991.1:p.Lys242GlnfsTer?
ENST00000698864.1:n.828_829insA
ENST00000698865.1:c.722_723insA	ENSP00000513992.1:p.Lys242GlnfsTer?
ENST00000698866.1:c.*127_*128insA	ENSP00000513993.1:n.*127_*128insA
ENST00000698867.1:n.4431_4432insA
ENST00000698868.1:c.722_723insA	ENSP00000513994.1:p.Lys242GlnfsTer?
ENST00000698869.1:c.722_723insA	ENSP00000513995.1:p.Lys242GlnfsTer?
ENST00000698870.1:c.722_723insA	ENSP00000513996.1:p.Lys242GlnfsTer?
ENST00000698871.1:n.979_980insA
ENST00000698872.1:c.182_183insA	ENSP00000513997.1:p.Lys62GlnfsTer?
ENST00000698873.1:c.182_183insA	ENSP00000513998.1:p.Lys62GlnfsTer?
ENST00000698874.1:c.182_183insA	ENSP00000513999.1:p.Lys62GlnfsTer?
ENST00000698875.1:n.582_583insA
ENST00000698878.1:c.722_723insA	ENSP00000514000.1:p.Lys242GlnfsTer?
ENST00000698879.1:c.631_632insA
ENST00000698880.1:c.562_563insA
ENST00000345728.10:c.722_723insA MANE Select	ENSP00000339950.5:p.Lys242GlnfsTer?
ENST00000279227.9:c.722_723insA	ENSP00000279227.5:p.Lys242GlnfsTer?
ENST00000345728.9:c.722_723insA	ENSP00000339950.5:p.Lys242GlnfsTer?
ENST00000541252.1:c.182_183insA	ENSP00000438885.1:p.Lys62GlnfsTer?
ENST00000541326.5:n.34_35insA
ENST00000544997.5:c.722_723insA	ENSP00000445778.1:p.Lys242GlnfsTer?
NM_031471.5:c.722_723insA	NP_113659.3:p.Lys242GlnfsTer?
NM_178443.2:c.722_723insA , LRG_180t1:c.722_723insA	NP_848537.1:p.Lys242GlnfsTer?
XM_011545294.1:c.722_723insA	XP_011543596.1:p.Lys242GlnfsTer?
XM_011545295.1:c.182_183insA	XP_011543597.1:p.Lys62GlnfsTer?
XM_011545296.1:c.182_183insA	XP_011543598.1:p.Lys62GlnfsTer?
XM_011545294.3:c.722_723insA	XP_011543596.1:p.Lys242GlnfsTer?
XM_011545295.2:c.182_183insA	XP_011543597.1:p.Lys62GlnfsTer?
XM_017018398.2:c.722_723insA	XP_016873887.1:p.Lys242GlnfsTer?
XM_017018399.1:c.182_183insA	XP_016873888.1:p.Lys62GlnfsTer?
NM_031471.6:c.722_723insA MANE Select	NP_113659.3:p.Lys242GlnfsTer?
NM_001382361.1:c.722_723insA	NP_001369290.1:p.Lys242GlnfsTer?
NM_001382362.1:c.722_723insA	NP_001369291.1:p.Lys242GlnfsTer?
NM_001382363.1:c.182_183insA	NP_001369292.1:p.Lys62GlnfsTer?
NM_001382364.1:c.182_183insA	NP_001369293.1:p.Lys62GlnfsTer?
NM_001382448.1:c.722_723insA	NP_001369377.1:p.Lys242GlnfsTer?
NM_178443.3:c.722_723insA	NP_848537.1:p.Lys242GlnfsTer?