Canonical Allele Identifier: CA645373074

Gene: FLCN

Linked Data

• ClinVar Variation Id: 432598
• ClinVar RCV Id: RCV000497917 ; RCV003449394
• dbSNP Id: rs1555608617
• gnomAD v4: 17-17219148-AG-A
• MyVariant Identifiers: chr17:g.17122463del (hg19) ; chr17:g.17219149del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17219152del , CM000679.2:g.17219152del	GRCh38
NC_000017.10:g.17122466del , CM000679.1:g.17122466del	GRCh37
NC_000017.9:g.17063191del	NCBI36
NG_008001.2:g.23040del , LRG_325:g.23040del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285071.9:c.932del MANE Select	ENSP00000285071.4:p.Pro311LeufsTer12
ENST00000285071.8:c.932del	ENSP00000285071.4:p.Pro311LeufsTer12
ENST00000427497.3:c.149-95del	ENSP00000394249.3:n.149-95del
NM_144997.5:c.932del , LRG_325t1:c.932del	NP_659434.2:p.Pro311LeufsTer12
XM_011523714.1:c.986del	XP_011522016.1:p.Pro329LeufsTer12
XM_011523715.1:c.986del	XP_011522017.1:p.Pro329LeufsTer12
XM_011523716.1:c.986del	XP_011522018.1:p.Pro329LeufsTer12
XM_011523717.1:c.986del	XP_011522019.1:p.Pro329LeufsTer12
XM_011523718.1:c.986del	XP_011522020.1:p.Pro329LeufsTer12
XM_011523719.1:c.986del	XP_011522021.1:p.Pro329LeufsTer12
XM_011523720.1:c.710del	XP_011522022.1:p.Pro237LeufsTer12
XM_011523721.1:c.986del	XP_011522023.1:p.Pro329LeufsTer12
XR_934007.1:n.2326del
NM_001353229.1:c.986del	NP_001340158.1:p.Pro329LeufsTer12
NM_001353230.1:c.932del	NP_001340159.1:p.Pro311LeufsTer12
NM_001353231.1:c.932del	NP_001340160.1:p.Pro311LeufsTer12
NM_144997.6:c.932del	NP_659434.2:p.Pro311LeufsTer12
XM_011523714.3:c.986del	XP_011522016.1:p.Pro329LeufsTer12
XM_011523718.3:c.986del	XP_011522020.1:p.Pro329LeufsTer12
XM_011523719.3:c.986del	XP_011522021.1:p.Pro329LeufsTer12
XM_011523721.3:c.986del	XP_011522023.1:p.Pro329LeufsTer12
XM_017024305.2:c.986del	XP_016879794.1:p.Pro329LeufsTer12
XM_017024308.1:c.932del	XP_016879797.1:p.Pro311LeufsTer12
XM_017024309.2:c.710del	XP_016879798.1:p.Pro237LeufsTer12
XM_024450635.1:c.986del	XP_024306403.1:p.Pro329LeufsTer12
XR_001752445.2:n.1490del
NM_144997.7:c.932del MANE Select	NP_659434.2:p.Pro311LeufsTer12
NM_001353229.2:c.986del	NP_001340158.1:p.Pro329LeufsTer12
NM_001353230.2:c.932del	NP_001340159.1:p.Pro311LeufsTer12
NM_001353231.2:c.932del	NP_001340160.1:p.Pro311LeufsTer12