Canonical Allele Identifier: CA16616648
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 405447
ClinVar RCV Id: RCV002230318
dbSNP Id: rs1060500718

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154353329_154353330del , CM000685.2:g.154353329_154353330del GRCh38
NC_000023.10:g.153581697_153581698del , CM000685.1:g.153581697_153581698del GRCh37
NC_000023.9:g.153234891_153234892del NCBI36
NG_011506.1:g.26309_26310del
NG_011506.2:g.26309_26310del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.5964_5965del ENSP00000353467.4:p.Cys1989PhefsTer7
ENST00000369850.10:c.5988_5989del MANE Select ENSP00000358866.3:p.Cys1997PhefsTer7
ENST00000369856.8:c.5907_5908del ENSP00000358872.4:p.Cys1970PhefsTer7
ENST00000422373.6:c.3161-655_3161-654del ENSP00000416926.2:n.3161-655_3161-654del
ENST00000610817.5:c.6045_6046del ENSP00000480593.2:n.6045_6046del
ENST00000673639.2:c.280-4640_280-4639del
ENST00000676696.1:c.6267_6268del ENSP00000503392.1:n.6267_6268del
ENST00000678304.1:n.1167_1168del
ENST00000344736.8:c.5868_5869del ENSP00000358863.3:p.Cys1957PhefsTer7
ENST00000360319.8:c.5964_5965del ENSP00000353467.4:p.Cys1989PhefsTer7
ENST00000369850.7:c.5988_5989del ENSP00000358866.3:p.Cys1997PhefsTer7
ENST00000369856.7:c.5907_5908del ENSP00000358872.4:p.Cys1970PhefsTer7
ENST00000415241.1:c.173_174del
ENST00000420627.5:c.5944_5945del ENSP00000408921.1:n.5944_5945del
ENST00000422373.5:c.5964_5965del ENSP00000416926.1:p.Cys1989PhefsTer7
ENST00000438732.2:c.662_663del
ENST00000466325.1:n.127_128del
ENST00000490936.5:n.1977_1978del
ENST00000610817.4:c.5844+63_5844+64del ENSP00000480593.1:n.5844+63_5844+64del
NM_001110556.1:c.5988_5989del NP_001104026.1:p.Cys1997PhefsTer7
NM_001456.3:c.5964_5965del NP_001447.2:p.Cys1989PhefsTer7
XM_011531127.1:c.5892_5893del XP_011529429.1:p.Cys1965PhefsTer7
XM_011531128.1:c.5868_5869del XP_011529430.1:p.Cys1957PhefsTer7
XM_011531129.1:c.5814_5815del XP_011529431.1:p.Cys1939PhefsTer7
XM_011531130.1:c.5790_5791del XP_011529432.1:p.Cys1931PhefsTer7
XM_011531131.1:c.5787_5788del XP_011529433.1:p.Cys1930PhefsTer7
NM_001110556.2:c.5988_5989del MANE Select NP_001104026.1:p.Cys1997PhefsTer7
NM_001456.4:c.5964_5965del NP_001447.2:p.Cys1989PhefsTer7