Canonical Allele Identifier: CA10586262

Gene: FLCN

Linked Data

• ClinVar Variation Id: 253241
• ClinVar RCV Id: RCV000239698 ; RCV000266138
• dbSNP Id: rs879255669
• MyVariant Identifiers: chr17:g.17122468dupT (hg19) ; chr17:g.17122467_17122468insT (hg19) ; chr17:g.17219154dupT (hg38) ; chr17:g.17219153_17219154insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17219156dup , CM000679.2:g.17219156dup	GRCh38
NC_000017.10:g.17122470dup , CM000679.1:g.17122470dup	GRCh37
NC_000017.9:g.17063195dup	NCBI36
NG_008001.2:g.23035dup , LRG_325:g.23035dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000285071.9:c.927dup MANE Select	ENSP00000285071.4:p.Ala310SerfsTer?
ENST00000285071.8:c.927dup	ENSP00000285071.4:p.Ala310SerfsTer?
ENST00000427497.3:c.149-100dup	ENSP00000394249.3:n.149-100dup
NM_144997.5:c.927dup , LRG_325t1:c.927dup	NP_659434.2:p.Ala310SerfsTer?
XM_011523714.1:c.981dup	XP_011522016.1:p.Ala328SerfsTer?
XM_011523715.1:c.981dup	XP_011522017.1:p.Ala328SerfsTer?
XM_011523716.1:c.981dup	XP_011522018.1:p.Ala328SerfsTer?
XM_011523717.1:c.981dup	XP_011522019.1:p.Ala328SerfsTer?
XM_011523718.1:c.981dup	XP_011522020.1:p.Ala328SerfsTer?
XM_011523719.1:c.981dup	XP_011522021.1:p.Ala328SerfsTer?
XM_011523720.1:c.705dup	XP_011522022.1:p.Ala236SerfsTer?
XM_011523721.1:c.981dup	XP_011522023.1:p.Ala328SerfsTer?
XR_934007.1:n.2321dup
NM_001353229.1:c.981dup	NP_001340158.1:p.Ala328SerfsTer?
NM_001353230.1:c.927dup	NP_001340159.1:p.Ala310SerfsTer?
NM_001353231.1:c.927dup	NP_001340160.1:p.Ala310SerfsTer?
NM_144997.6:c.927dup	NP_659434.2:p.Ala310SerfsTer?
XM_011523714.3:c.981dup	XP_011522016.1:p.Ala328SerfsTer?
XM_011523718.3:c.981dup	XP_011522020.1:p.Ala328SerfsTer?
XM_011523719.3:c.981dup	XP_011522021.1:p.Ala328SerfsTer?
XM_011523721.3:c.981dup	XP_011522023.1:p.Ala328SerfsTer?
XM_017024305.2:c.981dup	XP_016879794.1:p.Ala328SerfsTer?
XM_017024308.1:c.927dup	XP_016879797.1:p.Ala310SerfsTer?
XM_017024309.2:c.705dup	XP_016879798.1:p.Ala236SerfsTer?
XM_024450635.1:c.981dup	XP_024306403.1:p.Ala328SerfsTer?
XR_001752445.2:n.1485dup
NM_144997.7:c.927dup MANE Select	NP_659434.2:p.Ala310SerfsTer?
NM_001353229.2:c.981dup	NP_001340158.1:p.Ala328SerfsTer?
NM_001353230.2:c.927dup	NP_001340159.1:p.Ala310SerfsTer?
NM_001353231.2:c.927dup	NP_001340160.1:p.Ala310SerfsTer?