Canonical Allele Identifier: CA8416308

Gene: FLCN

Linked Data

• ClinVar Variation Id: 2576258
• ClinVar RCV Id: RCV003322317
• dbSNP Id: rs370821543
• ExAC: 17:17125767 TGA / T
• gnomAD v2: 17-17125767-TGA-T
• gnomAD v3: 17-17222453-TGA-T
• gnomAD v4: 17-17222453-TGA-T
• MyVariant Identifiers: chr17:g.17125768_17125769del (hg19) ; chr17:g.17222454_17222455del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17222454_17222455del , CM000679.2:g.17222454_17222455del	GRCh38
NC_000017.10:g.17125768_17125769del , CM000679.1:g.17125768_17125769del	GRCh37
NC_000017.9:g.17066493_17066494del	NCBI36
NG_008001.2:g.19734_19735del , LRG_325:g.19734_19735del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.779+46_779+47del MANE Select	ENSP00000285071.4:n.779+46_779+47del
ENST00000285071.8:c.779+46_779+47del	ENSP00000285071.4:n.779+46_779+47del
ENST00000389169.9:c.779+46_779+47del	ENSP00000373821.5:n.779+46_779+47del
ENST00000427497.3:c.149-3401_149-3400del	ENSP00000394249.3:n.149-3401_149-3400del
ENST00000466317.1:n.622+46_622+47del
ENST00000480316.1:n.745+46_745+47del
NM_144606.5:c.779+46_779+47del	NP_653207.1:n.779+46_779+47del
NM_144997.5:c.779+46_779+47del , LRG_325t1:c.779+46_779+47del	NP_659434.2:n.779+46_779+47del
XM_011523714.1:c.833+46_833+47del	XP_011522016.1:n.833+46_833+47del
XM_011523715.1:c.833+46_833+47del	XP_011522017.1:n.833+46_833+47del
XM_011523716.1:c.833+46_833+47del	XP_011522018.1:n.833+46_833+47del
XM_011523717.1:c.833+46_833+47del	XP_011522019.1:n.833+46_833+47del
XM_011523718.1:c.833+46_833+47del	XP_011522020.1:n.833+46_833+47del
XM_011523719.1:c.833+46_833+47del	XP_011522021.1:n.833+46_833+47del
XM_011523720.1:c.557+46_557+47del	XP_011522022.1:n.557+46_557+47del
XM_011523721.1:c.833+46_833+47del	XP_011522023.1:n.833+46_833+47del
XR_934007.1:n.2173+46_2173+47del
NM_001353229.1:c.833+46_833+47del	NP_001340158.1:n.833+46_833+47del
NM_001353230.1:c.779+46_779+47del	NP_001340159.1:n.779+46_779+47del
NM_001353231.1:c.779+46_779+47del	NP_001340160.1:n.779+46_779+47del
NM_144606.6:c.779+46_779+47del	NP_653207.1:n.779+46_779+47del
NM_144997.6:c.779+46_779+47del	NP_659434.2:n.779+46_779+47del
XM_011523714.3:c.833+46_833+47del	XP_011522016.1:n.833+46_833+47del
XM_011523718.3:c.833+46_833+47del	XP_011522020.1:n.833+46_833+47del
XM_011523719.3:c.833+46_833+47del	XP_011522021.1:n.833+46_833+47del
XM_011523721.3:c.833+46_833+47del	XP_011522023.1:n.833+46_833+47del
XM_017024305.2:c.833+46_833+47del	XP_016879794.1:n.833+46_833+47del
XM_017024308.1:c.779+46_779+47del	XP_016879797.1:n.779+46_779+47del
XM_017024309.2:c.557+46_557+47del	XP_016879798.1:n.557+46_557+47del
XM_024450635.1:c.833+46_833+47del	XP_024306403.1:n.833+46_833+47del
XR_001752445.2:n.1337+46_1337+47del
NM_144997.7:c.779+46_779+47del MANE Select	NP_659434.2:n.779+46_779+47del
NM_001353229.2:c.833+46_833+47del	NP_001340158.1:n.833+46_833+47del
NM_001353230.2:c.779+46_779+47del	NP_001340159.1:n.779+46_779+47del
NM_001353231.2:c.779+46_779+47del	NP_001340160.1:n.779+46_779+47del
NM_144606.7:c.779+46_779+47del	NP_653207.1:n.779+46_779+47del