Canonical Allele Identifier: CA915952157
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 818013
ClinVar RCV Id: RCV001009255
dbSNP Id: rs1603359417

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353317del , CM000685.2:g.154353317del GRCh38
NC_000023.10:g.153581685del , CM000685.1:g.153581685del GRCh37
NC_000023.9:g.153234879del NCBI36
NG_011506.1:g.26322del
NG_011506.2:g.26322del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.5977del ENSP00000353467.4:p.Arg1993GlyfsTer23
ENST00000369850.10:c.6001del MANE Select ENSP00000358866.3:p.Arg2001GlyfsTer23
ENST00000369856.8:c.5920del ENSP00000358872.4:p.Arg1974GlyfsTer23
ENST00000422373.6:c.3161-642del ENSP00000416926.2:n.3161-642del
ENST00000610817.5:c.6058del ENSP00000480593.2:n.6058del
ENST00000673639.2:c.280-4627del
ENST00000676696.1:c.6280del ENSP00000503392.1:n.6280del
ENST00000678304.1:n.1180del
ENST00000344736.8:c.5881del ENSP00000358863.3:p.Arg1961GlyfsTer23
ENST00000360319.8:c.5977del ENSP00000353467.4:p.Arg1993GlyfsTer23
ENST00000369850.7:c.6001del ENSP00000358866.3:p.Arg2001GlyfsTer23
ENST00000369856.7:c.5920del ENSP00000358872.4:p.Arg1974GlyfsTer23
ENST00000415241.1:c.186del
ENST00000420627.5:c.5957del ENSP00000408921.1:n.5957del
ENST00000422373.5:c.5977del ENSP00000416926.1:p.Arg1993GlyfsTer23
ENST00000438732.2:c.675del
ENST00000466325.1:n.140del
ENST00000490936.5:n.1990del
ENST00000610817.4:c.5844+76del ENSP00000480593.1:n.5844+76del
NM_001110556.1:c.6001del NP_001104026.1:p.Arg2001GlyfsTer23
NM_001456.3:c.5977del NP_001447.2:p.Arg1993GlyfsTer23
XM_011531127.1:c.5905del XP_011529429.1:p.Arg1969GlyfsTer23
XM_011531128.1:c.5881del XP_011529430.1:p.Arg1961GlyfsTer23
XM_011531129.1:c.5827del XP_011529431.1:p.Arg1943GlyfsTer23
XM_011531130.1:c.5803del XP_011529432.1:p.Arg1935GlyfsTer23
XM_011531131.1:c.5800del XP_011529433.1:p.Arg1934GlyfsTer23
NM_001110556.2:c.6001del MANE Select NP_001104026.1:p.Arg2001GlyfsTer23
NM_001456.4:c.5977del NP_001447.2:p.Arg1993GlyfsTer23