Canonical Allele Identifier: CA2573153080

Gene: FLCN MPRIP

Linked Data

• ClinVar Variation Id: 1462596
• ClinVar RCV Id: RCV001954301
• dbSNP Id: rs2144869403

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17217102_17217104del , CM000679.2:g.17217102_17217104del	GRCh38
NC_000017.10:g.17120416_17120418del , CM000679.1:g.17120416_17120418del	GRCh37
NC_000017.9:g.17061141_17061143del	NCBI36
NG_008001.2:g.25086_25088del , LRG_325:g.25086_25088del

Transcript Alleles

HGVS	Amino-acid change
ENST00000285071.9:c.1142_1144del (FLCN) MANE Select	ENSP00000285071.4:p.Val381del
ENST00000285071.8:c.1142_1144del (FLCN)	ENSP00000285071.4:p.Val381del
ENST00000427497.3:c.264_266del	ENSP00000394249.3:p.Gly89del
ENST00000577591.1:n.165_167del (FLCN)
ENST00000578209.5:c.562-388_562-386del (MPRIP)
NM_144997.5:c.1142_1144del , LRG_325t1:c.1142_1144del (FLCN)	NP_659434.2:p.Val381del
XM_011523714.1:c.1196_1198del (FLCN)	XP_011522016.1:p.Val399del
XM_011523715.1:c.1196_1198del (FLCN)	XP_011522017.1:p.Val399del
XM_011523716.1:c.1196_1198del (FLCN)	XP_011522018.1:p.Val399del
XM_011523717.1:c.1196_1198del (FLCN)	XP_011522019.1:p.Val399del
XM_011523718.1:c.1196_1198del (FLCN)	XP_011522020.1:p.Val399del
XM_011523719.1:c.1196_1198del (FLCN)	XP_011522021.1:p.Val399del
XM_011523720.1:c.920_922del (FLCN)	XP_011522022.1:p.Val307del
XM_011523721.1:c.1196_1198del (FLCN)	XP_011522023.1:p.Val399del
XR_934007.1:n.2536_2538del (FLCN)
NM_001353229.1:c.1196_1198del (FLCN)	NP_001340158.1:p.Val399del
NM_001353230.1:c.1142_1144del (FLCN)	NP_001340159.1:p.Val381del
NM_001353231.1:c.1142_1144del (FLCN)	NP_001340160.1:p.Val381del
NM_144997.6:c.1142_1144del (FLCN)	NP_659434.2:p.Val381del
XM_011523714.3:c.1196_1198del (FLCN)	XP_011522016.1:p.Val399del
XM_011523718.3:c.1196_1198del (FLCN)	XP_011522020.1:p.Val399del
XM_011523719.3:c.1196_1198del (FLCN)	XP_011522021.1:p.Val399del
XM_011523721.3:c.1196_1198del (FLCN)	XP_011522023.1:p.Val399del
XM_017024305.2:c.1196_1198del (FLCN)	XP_016879794.1:p.Val399del
XM_017024308.1:c.1142_1144del (FLCN)	XP_016879797.1:p.Val381del
XM_017024309.2:c.920_922del (FLCN)	XP_016879798.1:p.Val307del
XM_024450635.1:c.1196_1198del (FLCN)	XP_024306403.1:p.Val399del
XR_001752445.2:n.1700_1702del (FLCN)
NM_144997.7:c.1142_1144del (FLCN) MANE Select	NP_659434.2:p.Val381del
NM_001353229.2:c.1196_1198del (FLCN)	NP_001340158.1:p.Val399del
NM_001353230.2:c.1142_1144del (FLCN)	NP_001340159.1:p.Val381del
NM_001353231.2:c.1142_1144del (FLCN)	NP_001340160.1:p.Val381del