Canonical Allele Identifier: CA625014831

Gene: FLCN MPRIP

Linked Data

• ClinVar Variation Id: 1447126
• ClinVar RCV Id: RCV001996716
• dbSNP Id: rs1169650174
• gnomAD v2: 17-17117074-GTCC-G
• gnomAD v3: 17-17213760-GTCC-G
• gnomAD v4: 17-17213760-GTCC-G
• MyVariant Identifiers: chr17:g.17117075_17117077del (hg19) ; chr17:g.17213761_17213763del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17213766_17213768del , CM000679.2:g.17213766_17213768del	GRCh38
NC_000017.10:g.17117080_17117082del , CM000679.1:g.17117080_17117082del	GRCh37
NC_000017.9:g.17057805_17057807del	NCBI36
NG_008001.2:g.28426_28428del , LRG_325:g.28426_28428del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.1632_1634del (FLCN) MANE Select	ENSP00000285071.4:p.Glu544del
ENST00000285071.8:c.1632_1634del (FLCN)	ENSP00000285071.4:p.Glu544del
ENST00000427497.3:c.*372+1222_*372+1224del	ENSP00000394249.3:n.*372+1222_*372+1224del
ENST00000578209.5:c.562-3724_562-3722del (MPRIP)
NM_144997.5:c.1632_1634del , LRG_325t1:c.1632_1634del (FLCN)	NP_659434.2:p.Glu544del
XM_011523714.1:c.1686_1688del (FLCN)	XP_011522016.1:p.Glu562del
XM_011523715.1:c.1686_1688del (FLCN)	XP_011522017.1:p.Glu562del
XM_011523716.1:c.1686_1688del (FLCN)	XP_011522018.1:p.Glu562del
XM_011523717.1:c.1686_1688del (FLCN)	XP_011522019.1:p.Glu562del
XM_011523718.1:c.1686_1688del (FLCN)	XP_011522020.1:p.Glu562del
XM_011523719.1:c.1592+1222_1592+1224del (FLCN)	XP_011522021.1:n.1592+1222_1592+1224del
XM_011523720.1:c.1410_1412del (FLCN)	XP_011522022.1:p.Glu470del
XM_011523721.1:c.1686_1688del (FLCN)	XP_011522023.1:p.Glu562del
XR_934007.1:n.2902_2904del (FLCN)
NM_001353229.1:c.1686_1688del (FLCN)	NP_001340158.1:p.Glu562del
NM_001353230.1:c.1632_1634del (FLCN)	NP_001340159.1:p.Glu544del
NM_001353231.1:c.1632_1634del (FLCN)	NP_001340160.1:p.Glu544del
NM_144997.6:c.1632_1634del (FLCN)	NP_659434.2:p.Glu544del
XM_011523714.3:c.1686_1688del (FLCN)	XP_011522016.1:p.Glu562del
XM_011523718.3:c.1686_1688del (FLCN)	XP_011522020.1:p.Glu562del
XM_011523719.3:c.1592+1222_1592+1224del (FLCN)	XP_011522021.1:n.1592+1222_1592+1224del
XM_011523721.3:c.1686_1688del (FLCN)	XP_011522023.1:p.Glu562del
XM_017024305.2:c.1686_1688del (FLCN)	XP_016879794.1:p.Glu562del
XM_017024308.1:c.1632_1634del (FLCN)	XP_016879797.1:p.Glu544del
XM_017024309.2:c.1410_1412del (FLCN)	XP_016879798.1:p.Glu470del
XM_024450635.1:c.1686_1688del (FLCN)	XP_024306403.1:p.Glu562del
XR_001752445.2:n.2066_2068del (FLCN)
NM_144997.7:c.1632_1634del (FLCN) MANE Select	NP_659434.2:p.Glu544del
NM_001353229.2:c.1686_1688del (FLCN)	NP_001340158.1:p.Glu562del
NM_001353230.2:c.1632_1634del (FLCN)	NP_001340159.1:p.Glu544del
NM_001353231.2:c.1632_1634del (FLCN)	NP_001340160.1:p.Glu544del