Canonical Allele Identifier: CA2573055159
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 1306252
ClinVar RCV Id: RCV001767205
dbSNP Id: rs2148104645

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352834_154352836del , CM000685.2:g.154352834_154352836del GRCh38
NC_000023.10:g.153581202_153581204del , CM000685.1:g.153581202_153581204del GRCh37
NC_000023.9:g.153234396_153234398del NCBI36
NG_011506.1:g.26805_26807del
NG_011506.2:g.26805_26807del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6293_6295del ENSP00000353467.4:p.Tyr2098del
ENST00000369850.10:c.6317_6319del MANE Select ENSP00000358866.3:p.Tyr2106del
ENST00000369856.8:c.6236_6238del ENSP00000358872.4:p.Tyr2079del
ENST00000422373.6:c.3161-159_3161-157del ENSP00000416926.2:n.3161-159_3161-157del
ENST00000610817.5:c.6374_6376del ENSP00000480593.2:n.6374_6376del
ENST00000673639.2:c.280-4144_280-4142del
ENST00000676696.1:c.6596_6598del ENSP00000503392.1:n.6596_6598del
ENST00000678304.1:n.1496_1498del
ENST00000344736.8:c.6197_6199del ENSP00000358863.3:p.Tyr2066del
ENST00000360319.8:c.6293_6295del ENSP00000353467.4:p.Tyr2098del
ENST00000369850.7:c.6317_6319del ENSP00000358866.3:p.Tyr2106del
ENST00000369856.7:c.6236_6238del ENSP00000358872.4:p.Tyr2079del
ENST00000415241.1:c.519_521del
ENST00000420627.5:c.6273_6275del ENSP00000408921.1:n.6273_6275del
ENST00000422373.5:c.6293_6295del ENSP00000416926.1:p.Tyr2098del
ENST00000444578.1:c.260_262del ENSP00000397824.1:p.Tyr87del
ENST00000466325.1:n.532_534del
ENST00000490936.5:n.2306_2308del
ENST00000498411.1:n.50_52del
ENST00000610817.4:c.5844+559_5844+561del ENSP00000480593.1:n.5844+559_5844+561del
NM_001110556.1:c.6317_6319del NP_001104026.1:p.Tyr2106del
NM_001456.3:c.6293_6295del NP_001447.2:p.Tyr2098del
XM_011531127.1:c.6221_6223del XP_011529429.1:p.Tyr2074del
XM_011531128.1:c.6197_6199del XP_011529430.1:p.Tyr2066del
XM_011531129.1:c.6143_6145del XP_011529431.1:p.Tyr2048del
XM_011531130.1:c.6119_6121del XP_011529432.1:p.Tyr2040del
XM_011531131.1:c.6116_6118del XP_011529433.1:p.Tyr2039del
NM_001110556.2:c.6317_6319del MANE Select NP_001104026.1:p.Tyr2106del
NM_001456.4:c.6293_6295del NP_001447.2:p.Tyr2098del