Canonical Allele Identifier: CA16043012
Gene: FLCN HGNC NCBI

Linked Data

ClinVar Variation Id: 373020
ClinVar RCV Id: RCV000413452
dbSNP Id: rs1057518147
MyVariant Identifiers: chr17:g.17131210_17131211del (hg19) chr17:g.17227896_17227897del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17227896_17227897del , CM000679.2:g.17227896_17227897del GRCh38
NC_000017.10:g.17131210_17131211del , CM000679.1:g.17131210_17131211del GRCh37
NC_000017.9:g.17071935_17071936del NCBI36
NG_008001.2:g.14292_14293del , LRG_325:g.14292_14293del

Transcript Alleles

HGVS Amino-acid change
ENST00000285071.9:c.241_242del MANE Select ENSP00000285071.4:p.Met81ValfsTer18
ENST00000285071.8:c.241_242del ENSP00000285071.4:p.Met81ValfsTer18
ENST00000389168.6:n.1581_1582del
ENST00000389169.9:c.241_242del ENSP00000373821.5:p.Met81ValfsTer18
ENST00000389171.4:n.745_746del
ENST00000417064.1:c.82_83del ENSP00000410410.1:p.Met28ValfsTer18
ENST00000427497.3:c.148+93_148+94del ENSP00000394249.3:n.148+93_148+94del
NM_144606.5:c.241_242del NP_653207.1:p.Met81ValfsTer18
NM_144997.5:c.241_242del , LRG_325t1:c.241_242del NP_659434.2:p.Met81ValfsTer18
XM_011523714.1:c.241_242del XP_011522016.1:p.Met81ValfsTer18
XM_011523715.1:c.241_242del XP_011522017.1:p.Met81ValfsTer18
XM_011523716.1:c.241_242del XP_011522018.1:p.Met81ValfsTer18
XM_011523717.1:c.241_242del XP_011522019.1:p.Met81ValfsTer18
XM_011523718.1:c.241_242del XP_011522020.1:p.Met81ValfsTer18
XM_011523719.1:c.241_242del XP_011522021.1:p.Met81ValfsTer18
XM_011523720.1:c.241_242del XP_011522022.1:p.Met81ValfsTer18
XM_011523721.1:c.241_242del XP_011522023.1:p.Met81ValfsTer18
XR_934007.1:n.1581_1582del
NM_001353229.1:c.241_242del NP_001340158.1:p.Met81ValfsTer18
NM_001353230.1:c.241_242del NP_001340159.1:p.Met81ValfsTer18
NM_001353231.1:c.241_242del NP_001340160.1:p.Met81ValfsTer18
NM_144606.6:c.241_242del NP_653207.1:p.Met81ValfsTer18
NM_144997.6:c.241_242del NP_659434.2:p.Met81ValfsTer18
XM_011523714.3:c.241_242del XP_011522016.1:p.Met81ValfsTer18
XM_011523718.3:c.241_242del XP_011522020.1:p.Met81ValfsTer18
XM_011523719.3:c.241_242del XP_011522021.1:p.Met81ValfsTer18
XM_011523721.3:c.241_242del XP_011522023.1:p.Met81ValfsTer18
XM_017024305.2:c.241_242del XP_016879794.1:p.Met81ValfsTer18
XM_017024308.1:c.241_242del XP_016879797.1:p.Met81ValfsTer18
XM_017024309.2:c.241_242del XP_016879798.1:p.Met81ValfsTer18
XM_024450635.1:c.241_242del XP_024306403.1:p.Met81ValfsTer18
XR_001752445.2:n.745_746del
NM_144997.7:c.241_242del MANE Select NP_659434.2:p.Met81ValfsTer18
NM_001353229.2:c.241_242del NP_001340158.1:p.Met81ValfsTer18
NM_001353230.2:c.241_242del NP_001340159.1:p.Met81ValfsTer18
NM_001353231.2:c.241_242del NP_001340160.1:p.Met81ValfsTer18
NM_144606.7:c.241_242del NP_653207.1:p.Met81ValfsTer18
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