Canonical Allele Identifier: CA2250416807

Linked Data

dbSNP Id: rs2046910713

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17216100_17216108dup , CM000679.2:g.17216100_17216108dup GRCh38
NC_000017.10:g.17119414_17119422dup , CM000679.1:g.17119414_17119422dup GRCh37
NC_000017.9:g.17060139_17060147dup NCBI36
NG_008001.2:g.26088_26096dup , LRG_325:g.26088_26096dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000285071.9:c.1300+279_1300+287dup (FLCN) MANE Select ENSP00000285071.4:n.1300+279_1300+287dup
ENST00000285071.8:c.1300+279_1300+287dup (FLCN) ENSP00000285071.4:n.1300+279_1300+287dup
ENST00000427497.3:c.*134+279_*134+287dup ENSP00000394249.3:n.*134+279_*134+287dup
ENST00000578209.5:c.562-1390_562-1382dup (MPRIP)
NM_144997.5:c.1300+279_1300+287dup , LRG_325t1:c.1300+279_1300+287dup (FLCN) NP_659434.2:n.1300+279_1300+287dup
XM_011523714.1:c.1354+279_1354+287dup (FLCN) XP_011522016.1:n.1354+279_1354+287dup
XM_011523715.1:c.1354+279_1354+287dup (FLCN) XP_011522017.1:n.1354+279_1354+287dup
XM_011523716.1:c.1354+279_1354+287dup (FLCN) XP_011522018.1:n.1354+279_1354+287dup
XM_011523717.1:c.1354+279_1354+287dup (FLCN) XP_011522019.1:n.1354+279_1354+287dup
XM_011523718.1:c.1354+279_1354+287dup (FLCN) XP_011522020.1:n.1354+279_1354+287dup
XM_011523719.1:c.1354+279_1354+287dup (FLCN) XP_011522021.1:n.1354+279_1354+287dup
XM_011523720.1:c.1078+279_1078+287dup (FLCN) XP_011522022.1:n.1078+279_1078+287dup
XM_011523721.1:c.1354+279_1354+287dup (FLCN) XP_011522023.1:n.1354+279_1354+287dup
XR_934007.1:n.2571-785_2571-777dup (FLCN)
NM_001353229.1:c.1354+279_1354+287dup (FLCN) NP_001340158.1:n.1354+279_1354+287dup
NM_001353230.1:c.1300+279_1300+287dup (FLCN) NP_001340159.1:n.1300+279_1300+287dup
NM_001353231.1:c.1300+279_1300+287dup (FLCN) NP_001340160.1:n.1300+279_1300+287dup
NM_144997.6:c.1300+279_1300+287dup (FLCN) NP_659434.2:n.1300+279_1300+287dup
XM_011523714.3:c.1354+279_1354+287dup (FLCN) XP_011522016.1:n.1354+279_1354+287dup
XM_011523718.3:c.1354+279_1354+287dup (FLCN) XP_011522020.1:n.1354+279_1354+287dup
XM_011523719.3:c.1354+279_1354+287dup (FLCN) XP_011522021.1:n.1354+279_1354+287dup
XM_011523721.3:c.1354+279_1354+287dup (FLCN) XP_011522023.1:n.1354+279_1354+287dup
XM_017024305.2:c.1354+279_1354+287dup (FLCN) XP_016879794.1:n.1354+279_1354+287dup
XM_017024308.1:c.1300+279_1300+287dup (FLCN) XP_016879797.1:n.1300+279_1300+287dup
XM_017024309.2:c.1078+279_1078+287dup (FLCN) XP_016879798.1:n.1078+279_1078+287dup
XM_024450635.1:c.1354+279_1354+287dup (FLCN) XP_024306403.1:n.1354+279_1354+287dup
XR_001752445.2:n.1735-785_1735-777dup (FLCN)
NM_144997.7:c.1300+279_1300+287dup (FLCN) MANE Select NP_659434.2:n.1300+279_1300+287dup
NM_001353229.2:c.1354+279_1354+287dup (FLCN) NP_001340158.1:n.1354+279_1354+287dup
NM_001353230.2:c.1300+279_1300+287dup (FLCN) NP_001340159.1:n.1300+279_1300+287dup
NM_001353231.2:c.1300+279_1300+287dup (FLCN) NP_001340160.1:n.1300+279_1300+287dup