Canonical Allele Identifier: CA2580101762
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 2440288
ClinVar RCV Id: RCV003141686

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154362300_154362303del , CM000685.2:g.154362300_154362303del GRCh38
NC_000023.10:g.153590668_153590671del , CM000685.1:g.153590668_153590671del GRCh37
NC_000023.9:g.153243862_153243865del NCBI36
NG_011506.1:g.17337_17340del
NG_011506.2:g.17337_17340del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.2596_2599del ENSP00000353467.4:p.Val866SerfsTer9
ENST00000369850.10:c.2596_2599del MANE Select ENSP00000358866.3:p.Val866SerfsTer9
ENST00000369856.8:c.2515_2518del ENSP00000358872.4:p.Val839SerfsTer9
ENST00000422373.6:c.2596_2599del ENSP00000416926.2:p.Val866SerfsTer9
ENST00000610817.5:c.2653_2656del ENSP00000480593.2:n.2653_2656del
ENST00000673639.2:c.279+3134_279+3137del
ENST00000676696.1:c.2875_2878del ENSP00000503392.1:n.2875_2878del
ENST00000344736.8:c.2596_2599del ENSP00000358863.3:p.Val866SerfsTer9
ENST00000360319.8:c.2596_2599del ENSP00000353467.4:p.Val866SerfsTer9
ENST00000369850.7:c.2596_2599del ENSP00000358866.3:p.Val866SerfsTer9
ENST00000369856.7:c.2515_2518del ENSP00000358872.4:p.Val839SerfsTer9
ENST00000420627.5:c.2552_2555del ENSP00000408921.1:n.2552_2555del
ENST00000422373.5:c.2596_2599del ENSP00000416926.1:p.Val866SerfsTer9
ENST00000610817.4:c.2515_2518del ENSP00000480593.1:p.Val839SerfsTer9
NM_001110556.1:c.2596_2599del NP_001104026.1:p.Val866SerfsTer9
NM_001456.3:c.2596_2599del NP_001447.2:p.Val866SerfsTer9
XM_011531127.1:c.2596_2599del XP_011529429.1:p.Val866SerfsTer9
XM_011531128.1:c.2596_2599del XP_011529430.1:p.Val866SerfsTer9
XM_011531129.1:c.2596_2599del XP_011529431.1:p.Val866SerfsTer9
XM_011531130.1:c.2596_2599del XP_011529432.1:p.Val866SerfsTer9
XM_011531131.1:c.2395_2398del XP_011529433.1:p.Val799SerfsTer9
NM_001110556.2:c.2596_2599del MANE Select NP_001104026.1:p.Val866SerfsTer9
NM_001456.4:c.2596_2599del NP_001447.2:p.Val866SerfsTer9