Canonical Allele Identifier: CA645294094
Gene: FLCN HGNC NCBI
MPRIP HGNC NCBI

Linked Data

ClinVar Variation Id: 426738
ClinVar RCV Id: RCV000489234
dbSNP Id: rs1085307771
MyVariant Identifiers: chr17:g.17118599_17118602dup (hg19) chr17:g.17118598_17118599insGGCT (hg19) chr17:g.17215285_17215288dup (hg38) chr17:g.17215284_17215285insGGCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17215286_17215289dup , CM000679.2:g.17215286_17215289dup GRCh38
NC_000017.10:g.17118600_17118603dup , CM000679.1:g.17118600_17118603dup GRCh37
NC_000017.9:g.17059325_17059328dup NCBI36
NG_008001.2:g.26901_26904dup , LRG_325:g.26901_26904dup

Transcript Alleles

HGVS Amino-acid change
ENST00000285071.9:c.1329_1332dup (FLCN) MANE Select ENSP00000285071.4:p.Ala445SerfsTer12
ENST00000285071.8:c.1329_1332dup (FLCN) ENSP00000285071.4:p.Ala445SerfsTer12
ENST00000427497.3:c.*163_*166dup ENSP00000394249.3:n.*163_*166dup
ENST00000578209.5:c.562-2204_562-2201dup (MPRIP)
NM_144997.5:c.1329_1332dup , LRG_325t1:c.1329_1332dup (FLCN) NP_659434.2:p.Ala445SerfsTer12
XM_011523714.1:c.1383_1386dup (FLCN) XP_011522016.1:p.Ala463SerfsTer12
XM_011523715.1:c.1383_1386dup (FLCN) XP_011522017.1:p.Ala463SerfsTer12
XM_011523716.1:c.1383_1386dup (FLCN) XP_011522018.1:p.Ala463SerfsTer12
XM_011523717.1:c.1383_1386dup (FLCN) XP_011522019.1:p.Ala463SerfsTer12
XM_011523718.1:c.1383_1386dup (FLCN) XP_011522020.1:p.Ala463SerfsTer12
XM_011523719.1:c.1383_1386dup (FLCN) XP_011522021.1:p.Ala463SerfsTer12
XM_011523720.1:c.1107_1110dup (FLCN) XP_011522022.1:p.Ala371SerfsTer12
XM_011523721.1:c.1383_1386dup (FLCN) XP_011522023.1:p.Ala463SerfsTer12
XR_934007.1:n.2599_2602dup (FLCN)
NM_001353229.1:c.1383_1386dup (FLCN) NP_001340158.1:p.Ala463SerfsTer12
NM_001353230.1:c.1329_1332dup (FLCN) NP_001340159.1:p.Ala445SerfsTer12
NM_001353231.1:c.1329_1332dup (FLCN) NP_001340160.1:p.Ala445SerfsTer12
NM_144997.6:c.1329_1332dup (FLCN) NP_659434.2:p.Ala445SerfsTer12
XM_011523714.3:c.1383_1386dup (FLCN) XP_011522016.1:p.Ala463SerfsTer12
XM_011523718.3:c.1383_1386dup (FLCN) XP_011522020.1:p.Ala463SerfsTer12
XM_011523719.3:c.1383_1386dup (FLCN) XP_011522021.1:p.Ala463SerfsTer12
XM_011523721.3:c.1383_1386dup (FLCN) XP_011522023.1:p.Ala463SerfsTer12
XM_017024305.2:c.1383_1386dup (FLCN) XP_016879794.1:p.Ala463SerfsTer12
XM_017024308.1:c.1329_1332dup (FLCN) XP_016879797.1:p.Ala445SerfsTer12
XM_017024309.2:c.1107_1110dup (FLCN) XP_016879798.1:p.Ala371SerfsTer12
XM_024450635.1:c.1383_1386dup (FLCN) XP_024306403.1:p.Ala463SerfsTer12
XR_001752445.2:n.1763_1766dup (FLCN)
NM_144997.7:c.1329_1332dup (FLCN) MANE Select NP_659434.2:p.Ala445SerfsTer12
NM_001353229.2:c.1383_1386dup (FLCN) NP_001340158.1:p.Ala463SerfsTer12
NM_001353230.2:c.1329_1332dup (FLCN) NP_001340159.1:p.Ala445SerfsTer12
NM_001353231.2:c.1329_1332dup (FLCN) NP_001340160.1:p.Ala445SerfsTer12
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