Canonical Allele Identifier: CA2580092729

Gene: FLCN MPRIP

Linked Data

• ClinVar Variation Id: 1697665
• ClinVar RCV Id: RCV002268949
• dbSNP Id: rs2144870247

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17217133_17217153del , CM000679.2:g.17217133_17217153del	GRCh38
NC_000017.10:g.17120447_17120467del , CM000679.1:g.17120447_17120467del	GRCh37
NC_000017.9:g.17061172_17061192del	NCBI36
NG_008001.2:g.25037_25057del , LRG_325:g.25037_25057del

Transcript Alleles

HGVS	Amino-acid change
ENST00000285071.9:c.1093_1113del (FLCN) MANE Select	ENSP00000285071.4:p.Ala365_Gly371del
ENST00000285071.8:c.1093_1113del (FLCN)	ENSP00000285071.4:p.Ala365_Gly371del
ENST00000427497.3:c.215_235del	ENSP00000394249.3:p.Gly72_Gly78del
ENST00000577591.1:n.116_136del (FLCN)
ENST00000578209.5:c.562-357_562-337del (MPRIP)
NM_144997.5:c.1093_1113del , LRG_325t1:c.1093_1113del (FLCN)	NP_659434.2:p.Ala365_Gly371del
XM_011523714.1:c.1147_1167del (FLCN)	XP_011522016.1:p.Ala383_Gly389del
XM_011523715.1:c.1147_1167del (FLCN)	XP_011522017.1:p.Ala383_Gly389del
XM_011523716.1:c.1147_1167del (FLCN)	XP_011522018.1:p.Ala383_Gly389del
XM_011523717.1:c.1147_1167del (FLCN)	XP_011522019.1:p.Ala383_Gly389del
XM_011523718.1:c.1147_1167del (FLCN)	XP_011522020.1:p.Ala383_Gly389del
XM_011523719.1:c.1147_1167del (FLCN)	XP_011522021.1:p.Ala383_Gly389del
XM_011523720.1:c.871_891del (FLCN)	XP_011522022.1:p.Ala291_Gly297del
XM_011523721.1:c.1147_1167del (FLCN)	XP_011522023.1:p.Ala383_Gly389del
XR_934007.1:n.2487_2507del (FLCN)
NM_001353229.1:c.1147_1167del (FLCN)	NP_001340158.1:p.Ala383_Gly389del
NM_001353230.1:c.1093_1113del (FLCN)	NP_001340159.1:p.Ala365_Gly371del
NM_001353231.1:c.1093_1113del (FLCN)	NP_001340160.1:p.Ala365_Gly371del
NM_144997.6:c.1093_1113del (FLCN)	NP_659434.2:p.Ala365_Gly371del
XM_011523714.3:c.1147_1167del (FLCN)	XP_011522016.1:p.Ala383_Gly389del
XM_011523718.3:c.1147_1167del (FLCN)	XP_011522020.1:p.Ala383_Gly389del
XM_011523719.3:c.1147_1167del (FLCN)	XP_011522021.1:p.Ala383_Gly389del
XM_011523721.3:c.1147_1167del (FLCN)	XP_011522023.1:p.Ala383_Gly389del
XM_017024305.2:c.1147_1167del (FLCN)	XP_016879794.1:p.Ala383_Gly389del
XM_017024308.1:c.1093_1113del (FLCN)	XP_016879797.1:p.Ala365_Gly371del
XM_017024309.2:c.871_891del (FLCN)	XP_016879798.1:p.Ala291_Gly297del
XM_024450635.1:c.1147_1167del (FLCN)	XP_024306403.1:p.Ala383_Gly389del
XR_001752445.2:n.1651_1671del (FLCN)
NM_144997.7:c.1093_1113del (FLCN) MANE Select	NP_659434.2:p.Ala365_Gly371del
NM_001353229.2:c.1147_1167del (FLCN)	NP_001340158.1:p.Ala383_Gly389del
NM_001353230.2:c.1093_1113del (FLCN)	NP_001340159.1:p.Ala365_Gly371del
NM_001353231.2:c.1093_1113del (FLCN)	NP_001340160.1:p.Ala365_Gly371del