Canonical Allele Identifier: CA2250420852

Gene: FLCN

Linked Data

• ClinVar Variation Id: 1760219
• ClinVar RCV Id: RCV002400595 ; RCV003326162 ; RCV003403805
• dbSNP Id: rs2047122813
• gnomAD v4: 17-17222507-AAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17222511_17222513del , CM000679.2:g.17222511_17222513del	GRCh38
NC_000017.10:g.17125825_17125827del , CM000679.1:g.17125825_17125827del	GRCh37
NC_000017.9:g.17066550_17066552del	NCBI36
NG_008001.2:g.19679_19681del , LRG_325:g.19679_19681del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.770_772del MANE Select	ENSP00000285071.4:p.Ser257del
ENST00000285071.8:c.770_772del	ENSP00000285071.4:p.Ser257del
ENST00000389169.9:c.770_772del	ENSP00000373821.5:p.Ser257del
ENST00000427497.3:c.149-3456_149-3454del	ENSP00000394249.3:n.149-3456_149-3454del
ENST00000466317.1:n.613_615del
ENST00000480316.1:n.736_738del
NM_144606.5:c.770_772del	NP_653207.1:p.Ser257del
NM_144997.5:c.770_772del , LRG_325t1:c.770_772del	NP_659434.2:p.Ser257del
XM_011523714.1:c.824_826del	XP_011522016.1:p.Ser275del
XM_011523715.1:c.824_826del	XP_011522017.1:p.Ser275del
XM_011523716.1:c.824_826del	XP_011522018.1:p.Ser275del
XM_011523717.1:c.824_826del	XP_011522019.1:p.Ser275del
XM_011523718.1:c.824_826del	XP_011522020.1:p.Ser275del
XM_011523719.1:c.824_826del	XP_011522021.1:p.Ser275del
XM_011523720.1:c.548_550del	XP_011522022.1:p.Ser183del
XM_011523721.1:c.824_826del	XP_011522023.1:p.Ser275del
XR_934007.1:n.2164_2166del
NM_001353229.1:c.824_826del	NP_001340158.1:p.Ser275del
NM_001353230.1:c.770_772del	NP_001340159.1:p.Ser257del
NM_001353231.1:c.770_772del	NP_001340160.1:p.Ser257del
NM_144606.6:c.770_772del	NP_653207.1:p.Ser257del
NM_144997.6:c.770_772del	NP_659434.2:p.Ser257del
XM_011523714.3:c.824_826del	XP_011522016.1:p.Ser275del
XM_011523718.3:c.824_826del	XP_011522020.1:p.Ser275del
XM_011523719.3:c.824_826del	XP_011522021.1:p.Ser275del
XM_011523721.3:c.824_826del	XP_011522023.1:p.Ser275del
XM_017024305.2:c.824_826del	XP_016879794.1:p.Ser275del
XM_017024308.1:c.770_772del	XP_016879797.1:p.Ser257del
XM_017024309.2:c.548_550del	XP_016879798.1:p.Ser183del
XM_024450635.1:c.824_826del	XP_024306403.1:p.Ser275del
XR_001752445.2:n.1328_1330del
NM_144997.7:c.770_772del MANE Select	NP_659434.2:p.Ser257del
NM_001353229.2:c.824_826del	NP_001340158.1:p.Ser275del
NM_001353230.2:c.770_772del	NP_001340159.1:p.Ser257del
NM_001353231.2:c.770_772del	NP_001340160.1:p.Ser257del
NM_144606.7:c.770_772del	NP_653207.1:p.Ser257del