Canonical Allele Identifier: CA274730
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 190189
ClinVar RCV Id: RCV000170409
dbSNP Id: rs786205188

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154360269del , CM000685.2:g.154360269del GRCh38
NC_000023.10:g.153588637del , CM000685.1:g.153588637del GRCh37
NC_000023.9:g.153241831del NCBI36
NG_011506.1:g.19373del
NG_011506.2:g.19373del

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.3529del ENSP00000353467.4:p.Glu1177ArgfsTer17
ENST00000369850.10:c.3529del MANE Select ENSP00000358866.3:p.Glu1177ArgfsTer17
ENST00000369856.8:c.3448del ENSP00000358872.4:p.Glu1150ArgfsTer17
ENST00000422373.6:c.3160+1089del ENSP00000416926.2:n.3160+1089del
ENST00000610817.5:c.3586del ENSP00000480593.2:n.3586del
ENST00000673639.2:c.279+5170del
ENST00000676696.1:c.3808del ENSP00000503392.1:n.3808del
ENST00000344736.8:c.3529del ENSP00000358863.3:p.Glu1177ArgfsTer17
ENST00000360319.8:c.3529del ENSP00000353467.4:p.Glu1177ArgfsTer17
ENST00000369850.7:c.3529del ENSP00000358866.3:p.Glu1177ArgfsTer17
ENST00000369856.7:c.3448del ENSP00000358872.4:p.Glu1150ArgfsTer17
ENST00000420627.5:c.3485del ENSP00000408921.1:n.3485del
ENST00000422373.5:c.3529del ENSP00000416926.1:p.Glu1177ArgfsTer17
ENST00000610817.4:c.3448del ENSP00000480593.1:p.Glu1150ArgfsTer17
NM_001110556.1:c.3529del NP_001104026.1:p.Glu1177ArgfsTer17
NM_001456.3:c.3529del NP_001447.2:p.Glu1177ArgfsTer17
XM_011531127.1:c.3529del XP_011529429.1:p.Glu1177ArgfsTer17
XM_011531128.1:c.3529del XP_011529430.1:p.Glu1177ArgfsTer17
XM_011531129.1:c.3529del XP_011529431.1:p.Glu1177ArgfsTer17
XM_011531130.1:c.3529del XP_011529432.1:p.Glu1177ArgfsTer17
XM_011531131.1:c.3328del XP_011529433.1:p.Glu1110ArgfsTer17
NM_001110556.2:c.3529del MANE Select NP_001104026.1:p.Glu1177ArgfsTer17
NM_001456.4:c.3529del NP_001447.2:p.Glu1177ArgfsTer17