Canonical Allele Identifier: CA2250413672

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.17213772_17213788delinsCGCACCCAGGATGCTCA , CM000679.2:g.17213772_17213788delinsCGCACCCAGGATGCTCA GRCh38
NC_000017.10:g.17117086_17117102delinsCGCACCCAGGATGCTCA , CM000679.1:g.17117086_17117102delinsCGCACCCAGGATGCTCA GRCh37
NC_000017.9:g.17057811_17057827delinsCGCACCCAGGATGCTCA NCBI36
NG_008001.2:g.28401_28417delinsTGAGCATCCTGGGTGCG , LRG_325:g.28401_28417delinsTGAGCATCCTGGGTGCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000285071.9:c.1607_1623delinsTGAGCATCCTGGGTGCG (FLCN) MANE Select ENSP00000285071.4:p.Leu536=
ENST00000285071.8:c.1607_1623delinsTGAGCATCCTGGGTGCG (FLCN) ENSP00000285071.4:p.Leu536=
ENST00000427497.3:c.*372+1197_*372+1213delinsTGAGCATCCTGGGTGCG ENSP00000394249.3:n.*372+1197_*372+1213delinsTGAGCATCCTGGGTGC...
ENST00000578209.5:c.562-3718_562-3702delinsCGCACCCAGGATGCTCA (MPRIP)
NM_144997.5:c.1607_1623delinsTGAGCATCCTGGGTGCG , LRG_325t1:c.1607_1623delinsTGAGCATCCTGGGTGCG (FLCN) NP_659434.2:p.Leu536=
XM_011523714.1:c.1661_1677delinsTGAGCATCCTGGGTGCG (FLCN) XP_011522016.1:p.Leu554=
XM_011523715.1:c.1661_1677delinsTGAGCATCCTGGGTGCG (FLCN) XP_011522017.1:p.Leu554=
XM_011523716.1:c.1661_1677delinsTGAGCATCCTGGGTGCG (FLCN) XP_011522018.1:p.Leu554=
XM_011523717.1:c.1661_1677delinsTGAGCATCCTGGGTGCG (FLCN) XP_011522019.1:p.Leu554=
XM_011523718.1:c.1661_1677delinsTGAGCATCCTGGGTGCG (FLCN) XP_011522020.1:p.Leu554=
XM_011523719.1:c.1592+1197_1592+1213delinsTGAGCATCCTGGGTGCG (FLCN) XP_011522021.1:n.1592+1197_1592+1213delinsTGAGCATCCTGGGTGCG
XM_011523720.1:c.1385_1401delinsTGAGCATCCTGGGTGCG (FLCN) XP_011522022.1:p.Leu462=
XM_011523721.1:c.1661_1677delinsTGAGCATCCTGGGTGCG (FLCN) XP_011522023.1:p.Leu554=
XR_934007.1:n.2877_2893delinsTGAGCATCCTGGGTGCG (FLCN)
NM_001353229.1:c.1661_1677delinsTGAGCATCCTGGGTGCG (FLCN) NP_001340158.1:p.Leu554=
NM_001353230.1:c.1607_1623delinsTGAGCATCCTGGGTGCG (FLCN) NP_001340159.1:p.Leu536=
NM_001353231.1:c.1607_1623delinsTGAGCATCCTGGGTGCG (FLCN) NP_001340160.1:p.Leu536=
NM_144997.6:c.1607_1623delinsTGAGCATCCTGGGTGCG (FLCN) NP_659434.2:p.Leu536=
XM_011523714.3:c.1661_1677delinsTGAGCATCCTGGGTGCG (FLCN) XP_011522016.1:p.Leu554=
XM_011523718.3:c.1661_1677delinsTGAGCATCCTGGGTGCG (FLCN) XP_011522020.1:p.Leu554=
XM_011523719.3:c.1592+1197_1592+1213delinsTGAGCATCCTGGGTGCG (FLCN) XP_011522021.1:n.1592+1197_1592+1213delinsTGAGCATCCTGGGTGCG
XM_011523721.3:c.1661_1677delinsTGAGCATCCTGGGTGCG (FLCN) XP_011522023.1:p.Leu554=
XM_017024305.2:c.1661_1677delinsTGAGCATCCTGGGTGCG (FLCN) XP_016879794.1:p.Leu554=
XM_017024308.1:c.1607_1623delinsTGAGCATCCTGGGTGCG (FLCN) XP_016879797.1:p.Leu536=
XM_017024309.2:c.1385_1401delinsTGAGCATCCTGGGTGCG (FLCN) XP_016879798.1:p.Leu462=
XM_024450635.1:c.1661_1677delinsTGAGCATCCTGGGTGCG (FLCN) XP_024306403.1:p.Leu554=
XR_001752445.2:n.2041_2057delinsTGAGCATCCTGGGTGCG (FLCN)
NM_144997.7:c.1607_1623delinsTGAGCATCCTGGGTGCG (FLCN) MANE Select NP_659434.2:p.Leu536=
NM_001353229.2:c.1661_1677delinsTGAGCATCCTGGGTGCG (FLCN) NP_001340158.1:p.Leu554=
NM_001353230.2:c.1607_1623delinsTGAGCATCCTGGGTGCG (FLCN) NP_001340159.1:p.Leu536=
NM_001353231.2:c.1607_1623delinsTGAGCATCCTGGGTGCG (FLCN) NP_001340160.1:p.Leu536=