Canonical Allele Identifier: CA2695237782
Gene: FLNA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154352921_154352922dup , CM000685.2:g.154352921_154352922dup GRCh38
NC_000023.10:g.153581289_153581290dup , CM000685.1:g.153581289_153581290dup GRCh37
NC_000023.9:g.153234483_153234484dup NCBI36
NG_011506.1:g.26718_26719dup
NG_011506.2:g.26718_26719dup

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.6206_6207dup ENSP00000353467.4:p.Gly2070MetfsTer?
ENST00000369850.10:c.6230_6231dup MANE Select ENSP00000358866.3:p.Gly2078MetfsTer?
ENST00000369856.8:c.6149_6150dup ENSP00000358872.4:p.Gly2051MetfsTer?
ENST00000422373.6:c.3161-246_3161-245dup ENSP00000416926.2:n.3161-246_3161-245dup
ENST00000610817.5:c.6287_6288dup ENSP00000480593.2:n.6287_6288dup
ENST00000673639.2:c.280-4231_280-4230dup
ENST00000676696.1:c.6509_6510dup ENSP00000503392.1:n.6509_6510dup
ENST00000678304.1:n.1409_1410dup
ENST00000344736.8:c.6110_6111dup ENSP00000358863.3:p.Gly2038MetfsTer?
ENST00000360319.8:c.6206_6207dup ENSP00000353467.4:p.Gly2070MetfsTer?
ENST00000369850.7:c.6230_6231dup ENSP00000358866.3:p.Gly2078MetfsTer?
ENST00000369856.7:c.6149_6150dup ENSP00000358872.4:p.Gly2051MetfsTer?
ENST00000415241.1:c.432_433dup
ENST00000420627.5:c.6186_6187dup ENSP00000408921.1:n.6186_6187dup
ENST00000422373.5:c.6206_6207dup ENSP00000416926.1:p.Gly2070MetfsTer?
ENST00000444578.1:c.173_174dup ENSP00000397824.1:p.Gly59MetfsTer?
ENST00000466325.1:n.445_446dup
ENST00000490936.5:n.2219_2220dup
ENST00000610817.4:c.5844+472_5844+473dup ENSP00000480593.1:n.5844+472_5844+473dup
NM_001110556.1:c.6230_6231dup NP_001104026.1:p.Gly2078MetfsTer?
NM_001456.3:c.6206_6207dup NP_001447.2:p.Gly2070MetfsTer?
XM_011531127.1:c.6134_6135dup XP_011529429.1:p.Gly2046MetfsTer?
XM_011531128.1:c.6110_6111dup XP_011529430.1:p.Gly2038MetfsTer?
XM_011531129.1:c.6056_6057dup XP_011529431.1:p.Gly2020MetfsTer?
XM_011531130.1:c.6032_6033dup XP_011529432.1:p.Gly2012MetfsTer?
XM_011531131.1:c.6029_6030dup XP_011529433.1:p.Gly2011MetfsTer?
NM_001110556.2:c.6230_6231dup MANE Select NP_001104026.1:p.Gly2078MetfsTer?
NM_001456.4:c.6206_6207dup NP_001447.2:p.Gly2070MetfsTer?