Canonical Allele Identifier: CA645369708
Gene: FLCN HGNC NCBI

Linked Data

ClinVar Variation Id: 428637
dbSNP Id: rs1131690825

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17227980del , CM000679.2:g.17227980del GRCh38
NC_000017.10:g.17131294del , CM000679.1:g.17131294del GRCh37
NC_000017.9:g.17072019del NCBI36
NG_008001.2:g.14209del , LRG_325:g.14209del

Transcript Alleles

HGVS Amino-acid Change
ENST00000285071.9:c.158del MANE Select ENSP00000285071.4:p.Gln53ArgfsTer2
ENST00000285071.8:c.158del ENSP00000285071.4:p.Gln53ArgfsTer2
ENST00000389168.6:n.1498del
ENST00000389169.9:c.158del ENSP00000373821.5:p.Gln53ArgfsTer2
ENST00000389171.4:n.662del
ENST00000417064.1:c.-2del ENSP00000410410.1:n.-2del
ENST00000427497.3:c.148+10del ENSP00000394249.3:n.148+10del
NM_144606.5:c.158del NP_653207.1:p.Gln53ArgfsTer2
NM_144997.5:c.158del , LRG_325t1:c.158del NP_659434.2:p.Gln53ArgfsTer2
XM_011523714.1:c.158del XP_011522016.1:p.Gln53ArgfsTer2
XM_011523715.1:c.158del XP_011522017.1:p.Gln53ArgfsTer2
XM_011523716.1:c.158del XP_011522018.1:p.Gln53ArgfsTer2
XM_011523717.1:c.158del XP_011522019.1:p.Gln53ArgfsTer2
XM_011523718.1:c.158del XP_011522020.1:p.Gln53ArgfsTer2
XM_011523719.1:c.158del XP_011522021.1:p.Gln53ArgfsTer2
XM_011523720.1:c.158del XP_011522022.1:p.Gln53ArgfsTer2
XM_011523721.1:c.158del XP_011522023.1:p.Gln53ArgfsTer2
XR_934007.1:n.1498del
NM_001353229.1:c.158del NP_001340158.1:p.Gln53ArgfsTer2
NM_001353230.1:c.158del NP_001340159.1:p.Gln53ArgfsTer2
NM_001353231.1:c.158del NP_001340160.1:p.Gln53ArgfsTer2
NM_144606.6:c.158del NP_653207.1:p.Gln53ArgfsTer2
NM_144997.6:c.158del NP_659434.2:p.Gln53ArgfsTer2
XM_011523714.3:c.158del XP_011522016.1:p.Gln53ArgfsTer2
XM_011523718.3:c.158del XP_011522020.1:p.Gln53ArgfsTer2
XM_011523719.3:c.158del XP_011522021.1:p.Gln53ArgfsTer2
XM_011523721.3:c.158del XP_011522023.1:p.Gln53ArgfsTer2
XM_017024305.2:c.158del XP_016879794.1:p.Gln53ArgfsTer2
XM_017024308.1:c.158del XP_016879797.1:p.Gln53ArgfsTer2
XM_017024309.2:c.158del XP_016879798.1:p.Gln53ArgfsTer2
XM_024450635.1:c.158del XP_024306403.1:p.Gln53ArgfsTer2
XR_001752445.2:n.662del
NM_144997.7:c.158del MANE Select NP_659434.2:p.Gln53ArgfsTer2
NM_001353229.2:c.158del NP_001340158.1:p.Gln53ArgfsTer2
NM_001353230.2:c.158del NP_001340159.1:p.Gln53ArgfsTer2
NM_001353231.2:c.158del NP_001340160.1:p.Gln53ArgfsTer2
NM_144606.7:c.158del NP_653207.1:p.Gln53ArgfsTer2