Canonical Allele Identifier: CA10606236
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 288825
ClinVar RCV Id: RCV000403233
dbSNP Id: rs1057515584

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352904_154352907dup , CM000685.2:g.154352904_154352907dup GRCh38
NC_000023.10:g.153581272_153581275dup , CM000685.1:g.153581272_153581275dup GRCh37
NC_000023.9:g.153234466_153234469dup NCBI36
NG_011506.1:g.26733_26736dup
NG_011506.2:g.26733_26736dup

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.6221_6224dup ENSP00000353467.4:p.Ile2076ValfsTer3
ENST00000369850.10:c.6245_6248dup MANE Select ENSP00000358866.3:p.Ile2084ValfsTer3
ENST00000369856.8:c.6164_6167dup ENSP00000358872.4:p.Ile2057ValfsTer3
ENST00000422373.6:c.3161-231_3161-228dup ENSP00000416926.2:n.3161-231_3161-228dup
ENST00000610817.5:c.6302_6305dup ENSP00000480593.2:n.6302_6305dup
ENST00000673639.2:c.280-4216_280-4213dup
ENST00000676696.1:c.6524_6527dup ENSP00000503392.1:n.6524_6527dup
ENST00000678304.1:n.1424_1427dup
ENST00000344736.8:c.6125_6128dup ENSP00000358863.3:p.Ile2044ValfsTer3
ENST00000360319.8:c.6221_6224dup ENSP00000353467.4:p.Ile2076ValfsTer3
ENST00000369850.7:c.6245_6248dup ENSP00000358866.3:p.Ile2084ValfsTer3
ENST00000369856.7:c.6164_6167dup ENSP00000358872.4:p.Ile2057ValfsTer3
ENST00000415241.1:c.447_450dup
ENST00000420627.5:c.6201_6204dup ENSP00000408921.1:n.6201_6204dup
ENST00000422373.5:c.6221_6224dup ENSP00000416926.1:p.Ile2076ValfsTer3
ENST00000444578.1:c.188_191dup ENSP00000397824.1:p.Ile65ValfsTer3
ENST00000466325.1:n.460_463dup
ENST00000490936.5:n.2234_2237dup
ENST00000610817.4:c.5844+487_5844+490dup ENSP00000480593.1:n.5844+487_5844+490dup
NM_001110556.1:c.6245_6248dup NP_001104026.1:p.Ile2084ValfsTer3
NM_001456.3:c.6221_6224dup NP_001447.2:p.Ile2076ValfsTer3
XM_011531127.1:c.6149_6152dup XP_011529429.1:p.Ile2052ValfsTer3
XM_011531128.1:c.6125_6128dup XP_011529430.1:p.Ile2044ValfsTer3
XM_011531129.1:c.6071_6074dup XP_011529431.1:p.Ile2026ValfsTer3
XM_011531130.1:c.6047_6050dup XP_011529432.1:p.Ile2018ValfsTer3
XM_011531131.1:c.6044_6047dup XP_011529433.1:p.Ile2017ValfsTer3
NM_001110556.2:c.6245_6248dup MANE Select NP_001104026.1:p.Ile2084ValfsTer3
NM_001456.4:c.6221_6224dup NP_001447.2:p.Ile2076ValfsTer3