Canonical Allele Identifier: CA10580167

Gene: FLCN MPRIP

Linked Data

• ClinVar Variation Id: 234040
• ClinVar RCV Id: RCV000219888 ; RCV001244466
• dbSNP Id: rs876660810
• gnomAD v4: 17-17213796-CTG-C
• MyVariant Identifiers: chr17:g.17117111_17117112del (hg19) ; chr17:g.17213797_17213798del (hg38)
• PubMed: PMID:20403193

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17213802_17213803del , CM000679.2:g.17213802_17213803del	GRCh38
NC_000017.10:g.17117116_17117117del , CM000679.1:g.17117116_17117117del	GRCh37
NC_000017.9:g.17057841_17057842del	NCBI36
NG_008001.2:g.28391_28392del , LRG_325:g.28391_28392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.1597_1598del (FLCN) MANE Select	ENSP00000285071.4:p.Gln533GlufsTer?
ENST00000285071.8:c.1597_1598del (FLCN)	ENSP00000285071.4:p.Gln533GlufsTer?
ENST00000427497.3:c.*372+1187_*372+1188del	ENSP00000394249.3:n.*372+1187_*372+1188del
ENST00000578209.5:c.562-3688_562-3687del (MPRIP)
NM_144997.5:c.1597_1598del , LRG_325t1:c.1597_1598del (FLCN)	NP_659434.2:p.Gln533GlufsTer?
XM_011523714.1:c.1651_1652del (FLCN)	XP_011522016.1:p.Gln551GlufsTer?
XM_011523715.1:c.1651_1652del (FLCN)	XP_011522017.1:p.Gln551GlufsTer?
XM_011523716.1:c.1651_1652del (FLCN)	XP_011522018.1:p.Gln551GlufsTer?
XM_011523717.1:c.1651_1652del (FLCN)	XP_011522019.1:p.Gln551GlufsTer?
XM_011523718.1:c.1651_1652del (FLCN)	XP_011522020.1:p.Gln551GlufsTer?
XM_011523719.1:c.1592+1187_1592+1188del (FLCN)	XP_011522021.1:n.1592+1187_1592+1188del
XM_011523720.1:c.1375_1376del (FLCN)	XP_011522022.1:p.Gln459GlufsTer?
XM_011523721.1:c.1651_1652del (FLCN)	XP_011522023.1:p.Gln551GlufsTer?
XR_934007.1:n.2867_2868del (FLCN)
NM_001353229.1:c.1651_1652del (FLCN)	NP_001340158.1:p.Gln551GlufsTer?
NM_001353230.1:c.1597_1598del (FLCN)	NP_001340159.1:p.Gln533GlufsTer?
NM_001353231.1:c.1597_1598del (FLCN)	NP_001340160.1:p.Gln533GlufsTer?
NM_144997.6:c.1597_1598del (FLCN)	NP_659434.2:p.Gln533GlufsTer?
XM_011523714.3:c.1651_1652del (FLCN)	XP_011522016.1:p.Gln551GlufsTer?
XM_011523718.3:c.1651_1652del (FLCN)	XP_011522020.1:p.Gln551GlufsTer?
XM_011523719.3:c.1592+1187_1592+1188del (FLCN)	XP_011522021.1:n.1592+1187_1592+1188del
XM_011523721.3:c.1651_1652del (FLCN)	XP_011522023.1:p.Gln551GlufsTer?
XM_017024305.2:c.1651_1652del (FLCN)	XP_016879794.1:p.Gln551GlufsTer?
XM_017024308.1:c.1597_1598del (FLCN)	XP_016879797.1:p.Gln533GlufsTer?
XM_017024309.2:c.1375_1376del (FLCN)	XP_016879798.1:p.Gln459GlufsTer?
XM_024450635.1:c.1651_1652del (FLCN)	XP_024306403.1:p.Gln551GlufsTer?
XR_001752445.2:n.2031_2032del (FLCN)
NM_144997.7:c.1597_1598del (FLCN) MANE Select	NP_659434.2:p.Gln533GlufsTer?
NM_001353229.2:c.1651_1652del (FLCN)	NP_001340158.1:p.Gln551GlufsTer?
NM_001353230.2:c.1597_1598del (FLCN)	NP_001340159.1:p.Gln533GlufsTer?
NM_001353231.2:c.1597_1598del (FLCN)	NP_001340160.1:p.Gln533GlufsTer?