Canonical Allele Identifier: CA090951

Gene: FLCN MPRIP

Linked Data

• ClinVar Variation Id: 3363
• ClinVar RCV Id: RCV000003529 ; RCV000003530 ; RCV000082626 ; RCV000130568 ; RCV001762031 ; RCV002490302
• dbSNP Id: rs80338682
• ExAC: 17:17119708 T / TG
• gnomAD v2: 17-17119708-T-TG
• gnomAD v3: 17-17216394-T-TG
• gnomAD v4: 17-17216394-T-TG
• COSMIC: COSM1381204 ; COSM1733577
• MyVariant Identifiers: chr17:g.17119709dup (hg19) ; chr17:g.17119709dupG (hg19) ; chr17:g.17119709_17119710insG (hg19) ; chr17:g.17119708_17119709insG (hg19) ; chr17:g.17216395dupG (hg38) ; chr17:g.17216394_17216395insG (hg38)
• CIViC: CA090951
• PubMed: PMID:12204536 ; PMID:12471204 ; PMID:15852235 ; PMID:17124507 ; PMID:17496196 ; PMID:18234728 ; PMID:18505456 ; PMID:19562744 ; PMID:20301695 ; PMID:20522427 ; PMID:20618353 ; PMID:21538689 ; PMID:22148048 ; PMID:23757202 ; PMID:23784378 ; PMID:26028485 ; PMID:27220747

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17216402dup , CM000679.2:g.17216402dup	GRCh38
NC_000017.10:g.17119716dup , CM000679.1:g.17119716dup	GRCh37
NC_000017.9:g.17060441dup	NCBI36
NG_008001.2:g.25794dup , LRG_325:g.25794dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000285071.9:c.1285dup (FLCN) MANE Select	ENSP00000285071.4:p.His429ProfsTer27
ENST00000285071.8:c.1285dup (FLCN)	ENSP00000285071.4:p.His429ProfsTer27
ENST00000427497.3:c.*119dup	ENSP00000394249.3:n.*119dup
ENST00000578209.5:c.562-1088dup (MPRIP)
NM_144997.5:c.1285dup , LRG_325t1:c.1285dup (FLCN)	NP_659434.2:p.His429ProfsTer27
XM_011523714.1:c.1339dup (FLCN)	XP_011522016.1:p.His447ProfsTer27
XM_011523715.1:c.1339dup (FLCN)	XP_011522017.1:p.His447ProfsTer27
XM_011523716.1:c.1339dup (FLCN)	XP_011522018.1:p.His447ProfsTer27
XM_011523717.1:c.1339dup (FLCN)	XP_011522019.1:p.His447ProfsTer27
XM_011523718.1:c.1339dup (FLCN)	XP_011522020.1:p.His447ProfsTer27
XM_011523719.1:c.1339dup (FLCN)	XP_011522021.1:p.His447ProfsTer27
XM_011523720.1:c.1063dup (FLCN)	XP_011522022.1:p.His355ProfsTer27
XM_011523721.1:c.1339dup (FLCN)	XP_011522023.1:p.His447ProfsTer27
XR_934007.1:n.2570+674dup (FLCN)
NM_001353229.1:c.1339dup (FLCN)	NP_001340158.1:p.His447ProfsTer27
NM_001353230.1:c.1285dup (FLCN)	NP_001340159.1:p.His429ProfsTer27
NM_001353231.1:c.1285dup (FLCN)	NP_001340160.1:p.His429ProfsTer27
NM_144997.6:c.1285dup (FLCN)	NP_659434.2:p.His429ProfsTer27
XM_011523714.3:c.1339dup (FLCN)	XP_011522016.1:p.His447ProfsTer27
XM_011523718.3:c.1339dup (FLCN)	XP_011522020.1:p.His447ProfsTer27
XM_011523719.3:c.1339dup (FLCN)	XP_011522021.1:p.His447ProfsTer27
XM_011523721.3:c.1339dup (FLCN)	XP_011522023.1:p.His447ProfsTer27
XM_017024305.2:c.1339dup (FLCN)	XP_016879794.1:p.His447ProfsTer27
XM_017024308.1:c.1285dup (FLCN)	XP_016879797.1:p.His429ProfsTer27
XM_017024309.2:c.1063dup (FLCN)	XP_016879798.1:p.His355ProfsTer27
XM_024450635.1:c.1339dup (FLCN)	XP_024306403.1:p.His447ProfsTer27
XR_001752445.2:n.1734+674dup (FLCN)
NM_144997.7:c.1285dup (FLCN) MANE Select	NP_659434.2:p.His429ProfsTer27
NM_001353229.2:c.1339dup (FLCN)	NP_001340158.1:p.His447ProfsTer27
NM_001353230.2:c.1285dup (FLCN)	NP_001340159.1:p.His429ProfsTer27
NM_001353231.2:c.1285dup (FLCN)	NP_001340160.1:p.His429ProfsTer27