Canonical Allele Identifier: CA2250413494

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17213678_17213679delinsTG , CM000679.2:g.17213678_17213679delinsTG GRCh38
NC_000017.10:g.17116992_17116993delinsTG , CM000679.1:g.17116992_17116993delinsTG GRCh37
NC_000017.9:g.17057717_17057718delinsTG NCBI36
NG_008001.2:g.28510_28511delinsCA , LRG_325:g.28510_28511delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000285071.9:c.1716_1717delinsCA (FLCN) MANE Select ENSP00000285071.4:p.Pro572=
ENST00000285071.8:c.1716_1717delinsCA (FLCN) ENSP00000285071.4:p.Pro572=
ENST00000427497.3:c.*372+1306_*372+1307delinsCA ENSP00000394249.3:n.*372+1306_*372+1307delinsCA
ENST00000578209.5:c.562-3812_562-3811delinsTG (MPRIP)
NM_144997.5:c.1716_1717delinsCA , LRG_325t1:c.1716_1717delinsCA (FLCN) NP_659434.2:p.Pro572=
XM_011523714.1:c.1770_1771delinsCA (FLCN) XP_011522016.1:p.Pro590=
XM_011523715.1:c.1770_1771delinsCA (FLCN) XP_011522017.1:p.Pro590=
XM_011523716.1:c.1770_1771delinsCA (FLCN) XP_011522018.1:p.Pro590=
XM_011523717.1:c.1770_1771delinsCA (FLCN) XP_011522019.1:p.Pro590=
XM_011523718.1:c.1770_1771delinsCA (FLCN) XP_011522020.1:p.Pro590=
XM_011523719.1:c.1592+1306_1592+1307delinsCA (FLCN) XP_011522021.1:n.1592+1306_1592+1307delinsCA
XM_011523720.1:c.1494_1495delinsCA (FLCN) XP_011522022.1:p.Pro498=
XM_011523721.1:c.1770_1771delinsCA (FLCN) XP_011522023.1:p.Pro590=
NM_001353229.1:c.1770_1771delinsCA (FLCN) NP_001340158.1:p.Pro590=
NM_001353230.1:c.1716_1717delinsCA (FLCN) NP_001340159.1:p.Pro572=
NM_001353231.1:c.1716_1717delinsCA (FLCN) NP_001340160.1:p.Pro572=
NM_144997.6:c.1716_1717delinsCA (FLCN) NP_659434.2:p.Pro572=
XM_011523714.3:c.1770_1771delinsCA (FLCN) XP_011522016.1:p.Pro590=
XM_011523718.3:c.1770_1771delinsCA (FLCN) XP_011522020.1:p.Pro590=
XM_011523719.3:c.1592+1306_1592+1307delinsCA (FLCN) XP_011522021.1:n.1592+1306_1592+1307delinsCA
XM_011523721.3:c.1770_1771delinsCA (FLCN) XP_011522023.1:p.Pro590=
XM_017024305.2:c.1770_1771delinsCA (FLCN) XP_016879794.1:p.Pro590=
XM_017024308.1:c.1716_1717delinsCA (FLCN) XP_016879797.1:p.Pro572=
XM_017024309.2:c.1494_1495delinsCA (FLCN) XP_016879798.1:p.Pro498=
XM_024450635.1:c.1770_1771delinsCA (FLCN) XP_024306403.1:p.Pro590=
XR_001752445.2:n.2150_2151delinsCA (FLCN)
NM_144997.7:c.1716_1717delinsCA (FLCN) MANE Select NP_659434.2:p.Pro572=
NM_001353229.2:c.1770_1771delinsCA (FLCN) NP_001340158.1:p.Pro590=
NM_001353230.2:c.1716_1717delinsCA (FLCN) NP_001340159.1:p.Pro572=
NM_001353231.2:c.1716_1717delinsCA (FLCN) NP_001340160.1:p.Pro572=