Canonical Allele Identifier: CA10560557
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 837559
ClinVar RCV Id: RCV001038922
dbSNP Id: rs782078865

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154359241_154359243del , CM000685.2:g.154359241_154359243del GRCh38
NC_000023.10:g.153587609_153587611del , CM000685.1:g.153587609_153587611del GRCh37
NC_000023.9:g.153240803_153240805del NCBI36
NG_011506.1:g.20400_20402del
NG_011506.2:g.20400_20402del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.4303+7_4303+9del ENSP00000353467.4:n.4303+7_4303+9del
ENST00000369850.10:c.4303+7_4303+9del MANE Select ENSP00000358866.3:n.4303+7_4303+9del
ENST00000369856.8:c.4222+7_4222+9del ENSP00000358872.4:n.4222+7_4222+9del
ENST00000422373.6:c.3160+2116_3160+2118del ENSP00000416926.2:n.3160+2116_3160+2118del
ENST00000610817.5:c.4360+7_4360+9del ENSP00000480593.2:n.4360+7_4360+9del
ENST00000673639.2:c.279+6197_279+6199del
ENST00000676696.1:c.4582+7_4582+9del ENSP00000503392.1:n.4582+7_4582+9del
ENST00000678304.1:n.82+7_82+9del
ENST00000344736.8:c.4303+7_4303+9del ENSP00000358863.3:n.4303+7_4303+9del
ENST00000360319.8:c.4303+7_4303+9del ENSP00000353467.4:n.4303+7_4303+9del
ENST00000369850.7:c.4303+7_4303+9del ENSP00000358866.3:n.4303+7_4303+9del
ENST00000369856.7:c.4222+7_4222+9del ENSP00000358872.4:n.4222+7_4222+9del
ENST00000420627.5:c.4259+7_4259+9del ENSP00000408921.1:n.4259+7_4259+9del
ENST00000422373.5:c.4303+7_4303+9del ENSP00000416926.1:n.4303+7_4303+9del
ENST00000490936.5:n.316+7_316+9del
ENST00000610817.4:c.4222+7_4222+9del ENSP00000480593.1:n.4222+7_4222+9del
NM_001110556.1:c.4303+7_4303+9del NP_001104026.1:n.4303+7_4303+9del
NM_001456.3:c.4303+7_4303+9del NP_001447.2:n.4303+7_4303+9del
XM_011531127.1:c.4303+7_4303+9del XP_011529429.1:n.4303+7_4303+9del
XM_011531128.1:c.4303+7_4303+9del XP_011529430.1:n.4303+7_4303+9del
XM_011531129.1:c.4303+7_4303+9del XP_011529431.1:n.4303+7_4303+9del
XM_011531130.1:c.4303+7_4303+9del XP_011529432.1:n.4303+7_4303+9del
XM_011531131.1:c.4102+7_4102+9del XP_011529433.1:n.4102+7_4102+9del
NM_001110556.2:c.4303+7_4303+9del MANE Select NP_001104026.1:n.4303+7_4303+9del
NM_001456.4:c.4303+7_4303+9del NP_001447.2:n.4303+7_4303+9del