Canonical Allele Identifier: CA224154

Linked Data

ClinVar Variation Id: 3364
COSMIC: COSM26848

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17216402del , CM000679.2:g.17216402del GRCh38
NC_000017.10:g.17119716del , CM000679.1:g.17119716del GRCh37
NC_000017.9:g.17060441del NCBI36
NG_008001.2:g.25794del , LRG_325:g.25794del

Transcript Alleles

HGVS Amino-acid change
ENST00000285071.9:c.1285del (FLCN) MANE Select ENSP00000285071.4:p.His429ThrfsTer?
ENST00000285071.8:c.1285del (FLCN) ENSP00000285071.4:p.His429ThrfsTer?
ENST00000427497.3:c.*119del ENSP00000394249.3:n.*119del
ENST00000578209.5:n.562-1088del (MPRIP)
NM_144997.5:c.1285del , LRG_325t1:c.1285del (FLCN) NP_659434.2:p.His429ThrfsTer?
XM_011523714.1:c.1339del (FLCN) XP_011522016.1:p.His447ThrfsTer?
XM_011523715.1:c.1339del (FLCN) XP_011522017.1:p.His447ThrfsTer?
XM_011523716.1:c.1339del (FLCN) XP_011522018.1:p.His447ThrfsTer?
XM_011523717.1:c.1339del (FLCN) XP_011522019.1:p.His447ThrfsTer?
XM_011523718.1:c.1339del (FLCN) XP_011522020.1:p.His447ThrfsTer?
XM_011523719.1:c.1339del (FLCN) XP_011522021.1:p.His447ThrfsTer?
XM_011523720.1:c.1063del (FLCN) XP_011522022.1:p.His355ThrfsTer?
XM_011523721.1:c.1339del (FLCN) XP_011522023.1:p.His447ThrfsTer?
XR_934007.1:n.2570+674del (FLCN)
NM_001353229.1:c.1339del (FLCN) NP_001340158.1:p.His447ThrfsTer?
NM_001353230.1:c.1285del (FLCN) NP_001340159.1:p.His429ThrfsTer?
NM_001353231.1:c.1285del (FLCN) NP_001340160.1:p.His429ThrfsTer?
NM_144997.6:c.1285del (FLCN) NP_659434.2:p.His429ThrfsTer?
XM_011523714.3:c.1339del (FLCN) XP_011522016.1:p.His447ThrfsTer?
XM_011523718.3:c.1339del (FLCN) XP_011522020.1:p.His447ThrfsTer?
XM_011523719.3:c.1339del (FLCN) XP_011522021.1:p.His447ThrfsTer?
XM_011523721.3:c.1339del (FLCN) XP_011522023.1:p.His447ThrfsTer?
XM_017024305.2:c.1339del (FLCN) XP_016879794.1:p.His447ThrfsTer?
XM_017024308.1:c.1285del (FLCN) XP_016879797.1:p.His429ThrfsTer?
XM_017024309.2:c.1063del (FLCN) XP_016879798.1:p.His355ThrfsTer?
XM_024450635.1:c.1339del (FLCN) XP_024306403.1:p.His447ThrfsTer?
XR_001752445.2:n.1734+674del (FLCN)
NM_144997.7:c.1285del (FLCN) MANE Select NP_659434.2:p.His429ThrfsTer?
NM_001353229.2:c.1339del (FLCN) NP_001340158.1:p.His447ThrfsTer?
NM_001353230.2:c.1285del (FLCN) NP_001340159.1:p.His429ThrfsTer?
NM_001353231.2:c.1285del (FLCN) NP_001340160.1:p.His429ThrfsTer?