Canonical Allele Identifier: CA090951

Linked Data

ClinVar Variation Id: 3363
dbSNP Id: rs80338682
CIViC: CA090951

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000285071.9:c.1285dup (FLCN) MANE Select ENSP00000285071.4:p.His429ProfsTer27
ENST00000285071.8:c.1285dup (FLCN) ENSP00000285071.4:p.His429ProfsTer27
ENST00000427497.3:c.*119dup ENSP00000394249.3:n.*119dup
ENST00000578209.5:n.562-1088dup (MPRIP)
NM_144997.5:c.1285dup , LRG_325t1:c.1285dup (FLCN) NP_659434.2:p.His429ProfsTer27
XM_011523714.1:c.1339dup (FLCN) XP_011522016.1:p.His447ProfsTer27
XM_011523715.1:c.1339dup (FLCN) XP_011522017.1:p.His447ProfsTer27
XM_011523716.1:c.1339dup (FLCN) XP_011522018.1:p.His447ProfsTer27
XM_011523717.1:c.1339dup (FLCN) XP_011522019.1:p.His447ProfsTer27
XM_011523718.1:c.1339dup (FLCN) XP_011522020.1:p.His447ProfsTer27
XM_011523719.1:c.1339dup (FLCN) XP_011522021.1:p.His447ProfsTer27
XM_011523720.1:c.1063dup (FLCN) XP_011522022.1:p.His355ProfsTer27
XM_011523721.1:c.1339dup (FLCN) XP_011522023.1:p.His447ProfsTer27
XR_934007.1:n.2570+674dup (FLCN)
NM_001353229.1:c.1339dup (FLCN) NP_001340158.1:p.His447ProfsTer27
NM_001353230.1:c.1285dup (FLCN) NP_001340159.1:p.His429ProfsTer27
NM_001353231.1:c.1285dup (FLCN) NP_001340160.1:p.His429ProfsTer27
NM_144997.6:c.1285dup (FLCN) NP_659434.2:p.His429ProfsTer27
XM_011523714.3:c.1339dup (FLCN) XP_011522016.1:p.His447ProfsTer27
XM_011523718.3:c.1339dup (FLCN) XP_011522020.1:p.His447ProfsTer27
XM_011523719.3:c.1339dup (FLCN) XP_011522021.1:p.His447ProfsTer27
XM_011523721.3:c.1339dup (FLCN) XP_011522023.1:p.His447ProfsTer27
XM_017024305.2:c.1339dup (FLCN) XP_016879794.1:p.His447ProfsTer27
XM_017024308.1:c.1285dup (FLCN) XP_016879797.1:p.His429ProfsTer27
XM_017024309.2:c.1063dup (FLCN) XP_016879798.1:p.His355ProfsTer27
XM_024450635.1:c.1339dup (FLCN) XP_024306403.1:p.His447ProfsTer27
XR_001752445.2:n.1734+674dup (FLCN)
NM_144997.7:c.1285dup (FLCN) MANE Select NP_659434.2:p.His429ProfsTer27
NM_001353229.2:c.1339dup (FLCN) NP_001340158.1:p.His447ProfsTer27
NM_001353230.2:c.1285dup (FLCN) NP_001340159.1:p.His429ProfsTer27
NM_001353231.2:c.1285dup (FLCN) NP_001340160.1:p.His429ProfsTer27