Canonical Allele Identifier: CA2250413858

Gene: FLCN MPRIP

Linked Data

• dbSNP Id: rs2046823687

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17213841_17213842insTT , CM000679.2:g.17213841_17213842insTT	GRCh38
NC_000017.10:g.17117155_17117156insTT , CM000679.1:g.17117155_17117156insTT	GRCh37
NC_000017.9:g.17057880_17057881insTT	NCBI36
NG_008001.2:g.28347_28348insAA , LRG_325:g.28347_28348insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.1553_1554insAA (FLCN) MANE Select	ENSP00000285071.4:p.Phe519IlefsTer19
ENST00000285071.8:c.1553_1554insAA (FLCN)	ENSP00000285071.4:p.Phe519IlefsTer19
ENST00000427497.3:c.*372+1143_*372+1144insAA	ENSP00000394249.3:n.*372+1143_*372+1144insAA
ENST00000578209.5:c.562-3649_562-3648insTT (MPRIP)
NM_144997.5:c.1553_1554insAA , LRG_325t1:c.1553_1554insAA (FLCN)	NP_659434.2:p.Phe519IlefsTer19
XM_011523714.1:c.1607_1608insAA (FLCN)	XP_011522016.1:p.Phe537IlefsTer19
XM_011523715.1:c.1607_1608insAA (FLCN)	XP_011522017.1:p.Phe537IlefsTer19
XM_011523716.1:c.1607_1608insAA (FLCN)	XP_011522018.1:p.Phe537IlefsTer19
XM_011523717.1:c.1607_1608insAA (FLCN)	XP_011522019.1:p.Phe537IlefsTer19
XM_011523718.1:c.1607_1608insAA (FLCN)	XP_011522020.1:p.Phe537IlefsTer19
XM_011523719.1:c.1592+1143_1592+1144insAA (FLCN)	XP_011522021.1:n.1592+1143_1592+1144insAA
XM_011523720.1:c.1331_1332insAA (FLCN)	XP_011522022.1:p.Phe445IlefsTer19
XM_011523721.1:c.1607_1608insAA (FLCN)	XP_011522023.1:p.Phe537IlefsTer19
XR_934007.1:n.2823_2824insAA (FLCN)
NM_001353229.1:c.1607_1608insAA (FLCN)	NP_001340158.1:p.Phe537IlefsTer19
NM_001353230.1:c.1553_1554insAA (FLCN)	NP_001340159.1:p.Phe519IlefsTer19
NM_001353231.1:c.1553_1554insAA (FLCN)	NP_001340160.1:p.Phe519IlefsTer19
NM_144997.6:c.1553_1554insAA (FLCN)	NP_659434.2:p.Phe519IlefsTer19
XM_011523714.3:c.1607_1608insAA (FLCN)	XP_011522016.1:p.Phe537IlefsTer19
XM_011523718.3:c.1607_1608insAA (FLCN)	XP_011522020.1:p.Phe537IlefsTer19
XM_011523719.3:c.1592+1143_1592+1144insAA (FLCN)	XP_011522021.1:n.1592+1143_1592+1144insAA
XM_011523721.3:c.1607_1608insAA (FLCN)	XP_011522023.1:p.Phe537IlefsTer19
XM_017024305.2:c.1607_1608insAA (FLCN)	XP_016879794.1:p.Phe537IlefsTer19
XM_017024308.1:c.1553_1554insAA (FLCN)	XP_016879797.1:p.Phe519IlefsTer19
XM_017024309.2:c.1331_1332insAA (FLCN)	XP_016879798.1:p.Phe445IlefsTer19
XM_024450635.1:c.1607_1608insAA (FLCN)	XP_024306403.1:p.Phe537IlefsTer19
XR_001752445.2:n.1987_1988insAA (FLCN)
NM_144997.7:c.1553_1554insAA (FLCN) MANE Select	NP_659434.2:p.Phe519IlefsTer19
NM_001353229.2:c.1607_1608insAA (FLCN)	NP_001340158.1:p.Phe537IlefsTer19
NM_001353230.2:c.1553_1554insAA (FLCN)	NP_001340159.1:p.Phe519IlefsTer19
NM_001353231.2:c.1553_1554insAA (FLCN)	NP_001340160.1:p.Phe519IlefsTer19