Canonical Allele Identifier: CA915949594

Gene: FLCN MPRIP

Linked Data

• ClinVar Variation Id: 651413
• ClinVar RCV Id: RCV000806769 ; RCV002255530
• dbSNP Id: rs1597574088

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17213776_17213791del , CM000679.2:g.17213776_17213791del	GRCh38
NC_000017.10:g.17117090_17117105del , CM000679.1:g.17117090_17117105del	GRCh37
NC_000017.9:g.17057815_17057830del	NCBI36
NG_008001.2:g.28401_28416del , LRG_325:g.28401_28416del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.1607_1622del (FLCN) MANE Select	ENSP00000285071.4:p.Leu536ArgfsTer10
ENST00000285071.8:c.1607_1622del (FLCN)	ENSP00000285071.4:p.Leu536ArgfsTer10
ENST00000427497.3:c.*372+1197_*372+1212del	ENSP00000394249.3:n.*372+1197_*372+1212del
ENST00000578209.5:c.562-3714_562-3699del (MPRIP)
NM_144997.5:c.1607_1622del , LRG_325t1:c.1607_1622del (FLCN)	NP_659434.2:p.Leu536ArgfsTer10
XM_011523714.1:c.1661_1676del (FLCN)	XP_011522016.1:p.Leu554ArgfsTer10
XM_011523715.1:c.1661_1676del (FLCN)	XP_011522017.1:p.Leu554ArgfsTer10
XM_011523716.1:c.1661_1676del (FLCN)	XP_011522018.1:p.Leu554ArgfsTer10
XM_011523717.1:c.1661_1676del (FLCN)	XP_011522019.1:p.Leu554ArgfsTer10
XM_011523718.1:c.1661_1676del (FLCN)	XP_011522020.1:p.Leu554ArgfsTer10
XM_011523719.1:c.1592+1197_1592+1212del (FLCN)	XP_011522021.1:n.1592+1197_1592+1212del
XM_011523720.1:c.1385_1400del (FLCN)	XP_011522022.1:p.Leu462ArgfsTer10
XM_011523721.1:c.1661_1676del (FLCN)	XP_011522023.1:p.Leu554ArgfsTer10
XR_934007.1:n.2877_2892del (FLCN)
NM_001353229.1:c.1661_1676del (FLCN)	NP_001340158.1:p.Leu554ArgfsTer10
NM_001353230.1:c.1607_1622del (FLCN)	NP_001340159.1:p.Leu536ArgfsTer10
NM_001353231.1:c.1607_1622del (FLCN)	NP_001340160.1:p.Leu536ArgfsTer10
NM_144997.6:c.1607_1622del (FLCN)	NP_659434.2:p.Leu536ArgfsTer10
XM_011523714.3:c.1661_1676del (FLCN)	XP_011522016.1:p.Leu554ArgfsTer10
XM_011523718.3:c.1661_1676del (FLCN)	XP_011522020.1:p.Leu554ArgfsTer10
XM_011523719.3:c.1592+1197_1592+1212del (FLCN)	XP_011522021.1:n.1592+1197_1592+1212del
XM_011523721.3:c.1661_1676del (FLCN)	XP_011522023.1:p.Leu554ArgfsTer10
XM_017024305.2:c.1661_1676del (FLCN)	XP_016879794.1:p.Leu554ArgfsTer10
XM_017024308.1:c.1607_1622del (FLCN)	XP_016879797.1:p.Leu536ArgfsTer10
XM_017024309.2:c.1385_1400del (FLCN)	XP_016879798.1:p.Leu462ArgfsTer10
XM_024450635.1:c.1661_1676del (FLCN)	XP_024306403.1:p.Leu554ArgfsTer10
XR_001752445.2:n.2041_2056del (FLCN)
NM_144997.7:c.1607_1622del (FLCN) MANE Select	NP_659434.2:p.Leu536ArgfsTer10
NM_001353229.2:c.1661_1676del (FLCN)	NP_001340158.1:p.Leu554ArgfsTer10
NM_001353230.2:c.1607_1622del (FLCN)	NP_001340159.1:p.Leu536ArgfsTer10
NM_001353231.2:c.1607_1622del (FLCN)	NP_001340160.1:p.Leu536ArgfsTer10