Canonical Allele Identifier: CA2614112118

Gene: FERMT3

Linked Data

• ClinVar Variation Id: 2753871
• ClinVar RCV Id: RCV003498405
• gnomAD v4: 11-64223165-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64223167del , CM000673.2:g.64223167del	GRCh38
NC_000011.9:g.63990639del , CM000673.1:g.63990639del	GRCh37
NC_000011.8:g.63747215del	NCBI36
NG_016360.1:g.21488del , LRG_180:g.21488del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000279227.10:c.1802del	ENSP00000279227.5:p.Asn601MetfsTer?
ENST00000540554.2:n.3314del
ENST00000541252.2:c.1250del	ENSP00000438885.2:p.Asn417MetfsTer?
ENST00000544997.6:c.1790del	ENSP00000445778.2:p.Asn597MetfsTer?
ENST00000545896.2:c.354del	ENSP00000440209.2:p.Glu118AspfsTer?
ENST00000546255.2:n.2094del
ENST00000698845.1:c.*985del	ENSP00000513981.1:n.*985del
ENST00000698846.1:n.2036del
ENST00000698847.1:c.*1195del	ENSP00000513982.1:n.*1195del
ENST00000698850.1:n.3811del
ENST00000698852.1:c.1790del	ENSP00000513984.1:p.Asn597MetfsTer?
ENST00000698853.1:c.*1019del	ENSP00000513985.1:n.*1019del
ENST00000698854.1:c.*1120del	ENSP00000513986.1:n.*1120del
ENST00000698855.1:n.3442del
ENST00000698856.1:n.3136del
ENST00000698859.1:n.2300del
ENST00000698860.1:c.1802del	ENSP00000513988.1:p.Asn601MetfsTer?
ENST00000698861.1:c.1790del	ENSP00000513989.1:p.Asn597MetfsTer?
ENST00000698862.1:c.*1086del	ENSP00000513990.1:n.*1086del
ENST00000698863.1:c.1790del	ENSP00000513991.1:p.Asn597MetfsTer?
ENST00000698864.1:n.2351del
ENST00000698865.1:c.1811del	ENSP00000513992.1:p.Asn604MetfsTer?
ENST00000698866.1:c.*1578del	ENSP00000513993.1:n.*1578del
ENST00000698867.1:n.5765del
ENST00000698868.1:c.1655del	ENSP00000513994.1:p.Asn552MetfsTer?
ENST00000698869.1:c.1556del	ENSP00000513995.1:p.Asn519MetfsTer?
ENST00000698870.1:c.1790del	ENSP00000513996.1:p.Asn597MetfsTer?
ENST00000698871.1:n.2313del
ENST00000698872.1:c.*579del	ENSP00000513997.1:n.*579del
ENST00000698873.1:c.*985del	ENSP00000513998.1:n.*985del
ENST00000698874.1:c.1250del	ENSP00000513999.1:p.Asn417MetfsTer?
ENST00000698875.1:n.1650del
ENST00000698876.1:n.1838del
ENST00000698877.1:n.1358del
ENST00000698878.1:c.1784del	ENSP00000514000.1:p.Asn595MetfsTer?
ENST00000698880.1:c.1658del
ENST00000345728.10:c.1790del MANE Select	ENSP00000339950.5:p.Asn597MetfsTer?
ENST00000279227.9:c.1802del	ENSP00000279227.5:p.Asn601MetfsTer?
ENST00000345728.9:c.1790del	ENSP00000339950.5:p.Asn597MetfsTer?
ENST00000545896.1:c.353del	ENSP00000440209.1:p.Asn118MetfsTer?
NM_031471.5:c.1790del	NP_113659.3:p.Asn597MetfsTer?
NM_178443.2:c.1802del , LRG_180t1:c.1802del	NP_848537.1:p.Asn601MetfsTer?
XM_011545294.1:c.1802del	XP_011543596.1:p.Asn601MetfsTer?
XM_011545295.1:c.1262del	XP_011543597.1:p.Asn421MetfsTer?
XM_011545296.1:c.1262del	XP_011543598.1:p.Asn421MetfsTer?
XM_011545294.3:c.1802del	XP_011543596.1:p.Asn601MetfsTer?
XM_011545295.2:c.1262del	XP_011543597.1:p.Asn421MetfsTer?
XM_017018398.2:c.1790del	XP_016873887.1:p.Asn597MetfsTer?
XM_017018399.1:c.1250del	XP_016873888.1:p.Asn417MetfsTer?
NM_031471.6:c.1790del MANE Select	NP_113659.3:p.Asn597MetfsTer?
NM_001382361.1:c.1790del	NP_001369290.1:p.Asn597MetfsTer?
NM_001382362.1:c.1802del	NP_001369291.1:p.Asn601MetfsTer?
NM_001382363.1:c.1250del	NP_001369292.1:p.Asn417MetfsTer?
NM_001382364.1:c.1262del	NP_001369293.1:p.Asn421MetfsTer?
NM_001382448.1:c.1790del	NP_001369377.1:p.Asn597MetfsTer?
NM_178443.3:c.1802del	NP_848537.1:p.Asn601MetfsTer?