Canonical Allele Identifier: CA1139665244

Gene: FLCN MPRIP

Linked Data

• ClinVar Variation Id: 970712
• ClinVar RCV Id: RCV001246331
• dbSNP Id: rs2046923143

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17216420_17216427delinsCT , CM000679.2:g.17216420_17216427delinsCT	GRCh38
NC_000017.10:g.17119734_17119741delinsCT , CM000679.1:g.17119734_17119741delinsCT	GRCh37
NC_000017.9:g.17060459_17060466delinsCT	NCBI36
NG_008001.2:g.25762_25769delinsAG , LRG_325:g.25762_25769delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.1253_1260delinsAG (FLCN) MANE Select	ENSP00000285071.4:p.Leu418_Leu420delinsGln
ENST00000285071.8:c.1253_1260delinsAG (FLCN)	ENSP00000285071.4:p.Leu418_Leu420delinsGln
ENST00000427497.3:c.*87_*94delinsAG	ENSP00000394249.3:n.*87_*94delinsAG
ENST00000578209.5:c.562-1070_562-1063delinsCT (MPRIP)
NM_144997.5:c.1253_1260delinsAG , LRG_325t1:c.1253_1260delinsAG (FLCN)	NP_659434.2:p.Leu418_Leu420delinsGln
XM_011523714.1:c.1307_1314delinsAG (FLCN)	XP_011522016.1:p.Leu436_Leu438delinsGln
XM_011523715.1:c.1307_1314delinsAG (FLCN)	XP_011522017.1:p.Leu436_Leu438delinsGln
XM_011523716.1:c.1307_1314delinsAG (FLCN)	XP_011522018.1:p.Leu436_Leu438delinsGln
XM_011523717.1:c.1307_1314delinsAG (FLCN)	XP_011522019.1:p.Leu436_Leu438delinsGln
XM_011523718.1:c.1307_1314delinsAG (FLCN)	XP_011522020.1:p.Leu436_Leu438delinsGln
XM_011523719.1:c.1307_1314delinsAG (FLCN)	XP_011522021.1:p.Leu436_Leu438delinsGln
XM_011523720.1:c.1031_1038delinsAG (FLCN)	XP_011522022.1:p.Leu344_Leu346delinsGln
XM_011523721.1:c.1307_1314delinsAG (FLCN)	XP_011522023.1:p.Leu436_Leu438delinsGln
XR_934007.1:n.2570+642_2570+649delinsAG (FLCN)
NM_001353229.1:c.1307_1314delinsAG (FLCN)	NP_001340158.1:p.Leu436_Leu438delinsGln
NM_001353230.1:c.1253_1260delinsAG (FLCN)	NP_001340159.1:p.Leu418_Leu420delinsGln
NM_001353231.1:c.1253_1260delinsAG (FLCN)	NP_001340160.1:p.Leu418_Leu420delinsGln
NM_144997.6:c.1253_1260delinsAG (FLCN)	NP_659434.2:p.Leu418_Leu420delinsGln
XM_011523714.3:c.1307_1314delinsAG (FLCN)	XP_011522016.1:p.Leu436_Leu438delinsGln
XM_011523718.3:c.1307_1314delinsAG (FLCN)	XP_011522020.1:p.Leu436_Leu438delinsGln
XM_011523719.3:c.1307_1314delinsAG (FLCN)	XP_011522021.1:p.Leu436_Leu438delinsGln
XM_011523721.3:c.1307_1314delinsAG (FLCN)	XP_011522023.1:p.Leu436_Leu438delinsGln
XM_017024305.2:c.1307_1314delinsAG (FLCN)	XP_016879794.1:p.Leu436_Leu438delinsGln
XM_017024308.1:c.1253_1260delinsAG (FLCN)	XP_016879797.1:p.Leu418_Leu420delinsGln
XM_017024309.2:c.1031_1038delinsAG (FLCN)	XP_016879798.1:p.Leu344_Leu346delinsGln
XM_024450635.1:c.1307_1314delinsAG (FLCN)	XP_024306403.1:p.Leu436_Leu438delinsGln
XR_001752445.2:n.1734+642_1734+649delinsAG (FLCN)
NM_144997.7:c.1253_1260delinsAG (FLCN) MANE Select	NP_659434.2:p.Leu418_Leu420delinsGln
NM_001353229.2:c.1307_1314delinsAG (FLCN)	NP_001340158.1:p.Leu436_Leu438delinsGln
NM_001353230.2:c.1253_1260delinsAG (FLCN)	NP_001340159.1:p.Leu418_Leu420delinsGln
NM_001353231.2:c.1253_1260delinsAG (FLCN)	NP_001340160.1:p.Leu418_Leu420delinsGln