Canonical Allele Identifier: CA2636345614

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17213648_17213649dup , CM000679.2:g.17213648_17213649dup GRCh38
NC_000017.10:g.17116962_17116963dup , CM000679.1:g.17116962_17116963dup GRCh37
NC_000017.9:g.17057687_17057688dup NCBI36
NG_008001.2:g.28547_28548dup , LRG_325:g.28547_28548dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000285071.9:c.*13_*14dup (FLCN) MANE Select ENSP00000285071.4:n.*13_*14dup
ENST00000285071.8:c.*13_*14dup (FLCN) ENSP00000285071.4:n.*13_*14dup
ENST00000427497.3:c.*372+1343_*372+1344dup ENSP00000394249.3:n.*372+1343_*372+1344dup
ENST00000578209.5:c.562-3842_562-3841dup (MPRIP)
NM_144997.5:c.*13_*14dup , LRG_325t1:c.*13_*14dup (FLCN) NP_659434.2:n.*13_*14dup
XM_011523714.1:c.*13_*14dup (FLCN) XP_011522016.1:n.*13_*14dup
XM_011523715.1:c.*13_*14dup (FLCN) XP_011522017.1:n.*13_*14dup
XM_011523716.1:c.*13_*14dup (FLCN) XP_011522018.1:n.*13_*14dup
XM_011523717.1:c.*13_*14dup (FLCN) XP_011522019.1:n.*13_*14dup
XM_011523718.1:c.*13_*14dup (FLCN) XP_011522020.1:n.*13_*14dup
XM_011523719.1:c.1592+1343_1592+1344dup (FLCN) XP_011522021.1:n.1592+1343_1592+1344dup
XM_011523720.1:c.*13_*14dup (FLCN) XP_011522022.1:n.*13_*14dup
XM_011523721.1:c.*13_*14dup (FLCN) XP_011522023.1:n.*13_*14dup
NM_001353229.1:c.*13_*14dup (FLCN) NP_001340158.1:n.*13_*14dup
NM_001353230.1:c.*13_*14dup (FLCN) NP_001340159.1:n.*13_*14dup
NM_001353231.1:c.*13_*14dup (FLCN) NP_001340160.1:n.*13_*14dup
NM_144997.6:c.*13_*14dup (FLCN) NP_659434.2:n.*13_*14dup
XM_011523719.3:c.1592+1343_1592+1344dup (FLCN) XP_011522021.1:n.1592+1343_1592+1344dup
XM_017024309.2:c.*13_*14dup (FLCN) XP_016879798.1:n.*13_*14dup
XR_001752445.2:n.2187_2188dup (FLCN)
NM_144997.7:c.*13_*14dup (FLCN) MANE Select NP_659434.2:n.*13_*14dup
NM_001353229.2:c.*13_*14dup (FLCN) NP_001340158.1:n.*13_*14dup
NM_001353230.2:c.*13_*14dup (FLCN) NP_001340159.1:n.*13_*14dup
NM_001353231.2:c.*13_*14dup (FLCN) NP_001340160.1:n.*13_*14dup