Canonical Allele Identifier: CA224180

Gene: FLCN

Linked Data

• ClinVar Variation Id: 96492
• ClinVar RCV Id: RCV000082644 ; RCV000239720 ; RCV000492401 ; RCV003415852
• dbSNP Id: rs398124541
• ExAC: 17:17122501 GCTTT / G
• gnomAD v2: 17-17122501-GCTTT-G
• gnomAD v4: 17-17219187-GCTTT-G
• MyVariant Identifiers: chr17:g.17122502_17122505del (hg19) ; chr17:g.17122502_17122505delCTTT (hg19) ; chr17:g.17219188_17219191del (hg38)
• PubMed: PMID:18794106 ; PMID:19785621 ; PMID:27356891 ; PMID:27470329 ; PMID:29138412

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17219190_17219193del , CM000679.2:g.17219190_17219193del	GRCh38
NC_000017.10:g.17122504_17122507del , CM000679.1:g.17122504_17122507del	GRCh37
NC_000017.9:g.17063229_17063232del	NCBI36
NG_008001.2:g.22998_23001del , LRG_325:g.22998_23001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.890_893del MANE Select	ENSP00000285071.4:p.Glu297AlafsTer25
ENST00000285071.8:c.890_893del	ENSP00000285071.4:p.Glu297AlafsTer25
ENST00000427497.3:c.149-137_149-134del	ENSP00000394249.3:n.149-137_149-134del
NM_144997.5:c.890_893del , LRG_325t1:c.890_893del	NP_659434.2:p.Glu297AlafsTer25
XM_011523714.1:c.944_947del	XP_011522016.1:p.Glu315AlafsTer25
XM_011523715.1:c.944_947del	XP_011522017.1:p.Glu315AlafsTer25
XM_011523716.1:c.944_947del	XP_011522018.1:p.Glu315AlafsTer25
XM_011523717.1:c.944_947del	XP_011522019.1:p.Glu315AlafsTer25
XM_011523718.1:c.944_947del	XP_011522020.1:p.Glu315AlafsTer25
XM_011523719.1:c.944_947del	XP_011522021.1:p.Glu315AlafsTer25
XM_011523720.1:c.668_671del	XP_011522022.1:p.Glu223AlafsTer25
XM_011523721.1:c.944_947del	XP_011522023.1:p.Glu315AlafsTer25
XR_934007.1:n.2284_2287del
NM_001353229.1:c.944_947del	NP_001340158.1:p.Glu315AlafsTer25
NM_001353230.1:c.890_893del	NP_001340159.1:p.Glu297AlafsTer25
NM_001353231.1:c.890_893del	NP_001340160.1:p.Glu297AlafsTer25
NM_144997.6:c.890_893del	NP_659434.2:p.Glu297AlafsTer25
XM_011523714.3:c.944_947del	XP_011522016.1:p.Glu315AlafsTer25
XM_011523718.3:c.944_947del	XP_011522020.1:p.Glu315AlafsTer25
XM_011523719.3:c.944_947del	XP_011522021.1:p.Glu315AlafsTer25
XM_011523721.3:c.944_947del	XP_011522023.1:p.Glu315AlafsTer25
XM_017024305.2:c.944_947del	XP_016879794.1:p.Glu315AlafsTer25
XM_017024308.1:c.890_893del	XP_016879797.1:p.Glu297AlafsTer25
XM_017024309.2:c.668_671del	XP_016879798.1:p.Glu223AlafsTer25
XM_024450635.1:c.944_947del	XP_024306403.1:p.Glu315AlafsTer25
XR_001752445.2:n.1448_1451del
NM_144997.7:c.890_893del MANE Select	NP_659434.2:p.Glu297AlafsTer25
NM_001353229.2:c.944_947del	NP_001340158.1:p.Glu315AlafsTer25
NM_001353230.2:c.890_893del	NP_001340159.1:p.Glu297AlafsTer25
NM_001353231.2:c.890_893del	NP_001340160.1:p.Glu297AlafsTer25