Canonical Allele Identifier: CA645293898
Gene: FLCN HGNC NCBI

Linked Data

ClinVar Variation Id: 426160
ClinVar RCV Id: RCV000489049 RCV001064850
dbSNP Id: rs1085307478
MyVariant Identifiers: chr17:g.17127327_17127333del (hg19) chr17:g.17224013_17224019del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17224013_17224019del , CM000679.2:g.17224013_17224019del GRCh38
NC_000017.10:g.17127327_17127333del , CM000679.1:g.17127327_17127333del GRCh37
NC_000017.9:g.17068052_17068058del NCBI36
NG_008001.2:g.18170_18176del , LRG_325:g.18170_18176del

Transcript Alleles

HGVS Amino-acid change
ENST00000285071.9:c.521_527del MANE Select ENSP00000285071.4:p.Thr174ArgfsTer?
ENST00000285071.8:c.521_527del ENSP00000285071.4:p.Thr174ArgfsTer?
ENST00000389169.9:c.521_527del ENSP00000373821.5:p.Thr174ArgfsTer?
ENST00000417064.1:c.362_368del ENSP00000410410.1:p.Thr121ArgfsTer?
ENST00000427497.3:c.148+3971_148+3977del ENSP00000394249.3:n.148+3971_148+3977del
ENST00000480316.1:n.487_493del
NM_144606.5:c.521_527del NP_653207.1:p.Thr174ArgfsTer?
NM_144997.5:c.521_527del , LRG_325t1:c.521_527del NP_659434.2:p.Thr174ArgfsTer?
XM_011523714.1:c.575_581del XP_011522016.1:p.Thr192ArgfsTer?
XM_011523715.1:c.575_581del XP_011522017.1:p.Thr192ArgfsTer?
XM_011523716.1:c.575_581del XP_011522018.1:p.Thr192ArgfsTer?
XM_011523717.1:c.575_581del XP_011522019.1:p.Thr192ArgfsTer?
XM_011523718.1:c.575_581del XP_011522020.1:p.Thr192ArgfsTer?
XM_011523719.1:c.575_581del XP_011522021.1:p.Thr192ArgfsTer?
XM_011523720.1:c.397-1358_397-1352del XP_011522022.1:n.397-1358_397-1352del
XM_011523721.1:c.575_581del XP_011522023.1:p.Thr192ArgfsTer?
XR_934007.1:n.1915_1921del
NM_001353229.1:c.575_581del NP_001340158.1:p.Thr192ArgfsTer?
NM_001353230.1:c.521_527del NP_001340159.1:p.Thr174ArgfsTer?
NM_001353231.1:c.521_527del NP_001340160.1:p.Thr174ArgfsTer?
NM_144606.6:c.521_527del NP_653207.1:p.Thr174ArgfsTer?
NM_144997.6:c.521_527del NP_659434.2:p.Thr174ArgfsTer?
XM_011523714.3:c.575_581del XP_011522016.1:p.Thr192ArgfsTer?
XM_011523718.3:c.575_581del XP_011522020.1:p.Thr192ArgfsTer?
XM_011523719.3:c.575_581del XP_011522021.1:p.Thr192ArgfsTer?
XM_011523721.3:c.575_581del XP_011522023.1:p.Thr192ArgfsTer?
XM_017024305.2:c.575_581del XP_016879794.1:p.Thr192ArgfsTer?
XM_017024308.1:c.521_527del XP_016879797.1:p.Thr174ArgfsTer?
XM_017024309.2:c.397-1358_397-1352del XP_016879798.1:n.397-1358_397-1352del
XM_024450635.1:c.575_581del XP_024306403.1:p.Thr192ArgfsTer?
XR_001752445.2:n.1079_1085del
NM_144997.7:c.521_527del MANE Select NP_659434.2:p.Thr174ArgfsTer?
NM_001353229.2:c.575_581del NP_001340158.1:p.Thr192ArgfsTer?
NM_001353230.2:c.521_527del NP_001340159.1:p.Thr174ArgfsTer?
NM_001353231.2:c.521_527del NP_001340160.1:p.Thr174ArgfsTer?
NM_144606.7:c.521_527del NP_653207.1:p.Thr174ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'