Canonical Allele Identifier: CA274746
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 190202
ClinVar RCV Id: RCV000170423
dbSNP Id: rs786205201

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352795_154352796del , CM000685.2:g.154352795_154352796del GRCh38
NC_000023.10:g.153581163_153581164del , CM000685.1:g.153581163_153581164del GRCh37
NC_000023.9:g.153234357_153234358del NCBI36
NG_011506.1:g.26843_26844del
NG_011506.2:g.26843_26844del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.6331_6332del ENSP00000353467.4:p.Lys2111ValfsTer?
ENST00000369850.10:c.6355_6356del MANE Select ENSP00000358866.3:p.Lys2119ValfsTer?
ENST00000369856.8:c.6274_6275del ENSP00000358872.4:p.Lys2092ValfsTer?
ENST00000422373.6:c.3161-121_3161-120del ENSP00000416926.2:n.3161-121_3161-120del
ENST00000610817.5:c.6412_6413del ENSP00000480593.2:n.6412_6413del
ENST00000673639.2:c.280-4106_280-4105del
ENST00000676696.1:c.6634_6635del ENSP00000503392.1:n.6634_6635del
ENST00000678304.1:n.1534_1535del
ENST00000344736.8:c.6235_6236del ENSP00000358863.3:p.Lys2079ValfsTer?
ENST00000360319.8:c.6331_6332del ENSP00000353467.4:p.Lys2111ValfsTer?
ENST00000369850.7:c.6355_6356del ENSP00000358866.3:p.Lys2119ValfsTer?
ENST00000369856.7:c.6274_6275del ENSP00000358872.4:p.Lys2092ValfsTer?
ENST00000415241.1:c.557_558del
ENST00000420627.5:c.6311_6312del ENSP00000408921.1:n.6311_6312del
ENST00000422373.5:c.6331_6332del ENSP00000416926.1:p.Lys2111ValfsTer?
ENST00000444578.1:c.298_299del ENSP00000397824.1:p.Lys100ValfsTer8
ENST00000466325.1:n.570_571del
ENST00000490936.5:n.2344_2345del
ENST00000498411.1:n.67+21_67+22del
ENST00000610817.4:c.5844+597_5844+598del ENSP00000480593.1:n.5844+597_5844+598del
NM_001110556.1:c.6355_6356del NP_001104026.1:p.Lys2119ValfsTer?
NM_001456.3:c.6331_6332del NP_001447.2:p.Lys2111ValfsTer?
XM_011531127.1:c.6259_6260del XP_011529429.1:p.Lys2087ValfsTer?
XM_011531128.1:c.6235_6236del XP_011529430.1:p.Lys2079ValfsTer?
XM_011531129.1:c.6181_6182del XP_011529431.1:p.Lys2061ValfsTer?
XM_011531130.1:c.6157_6158del XP_011529432.1:p.Lys2053ValfsTer?
XM_011531131.1:c.6154_6155del XP_011529433.1:p.Lys2052ValfsTer?
NM_001110556.2:c.6355_6356del MANE Select NP_001104026.1:p.Lys2119ValfsTer?
NM_001456.4:c.6331_6332del NP_001447.2:p.Lys2111ValfsTer?