Canonical Allele Identifier: CA2580612525
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 1254666
ClinVar RCV Id: RCV001658848
dbSNP Id: rs2148121907

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154370987_154370989del , CM000685.2:g.154370987_154370989del GRCh38
NC_000023.10:g.153599355_153599357del , CM000685.1:g.153599355_153599357del GRCh37
NC_000023.9:g.153252549_153252551del NCBI36
NG_008677.1:g.1560_1562del , LRG_745:g.1560_1562del
NG_011506.1:g.8656_8658del
NG_011506.2:g.8656_8658del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360319.9:c.263_265del ENSP00000353467.4:p.Lys88del
ENST00000369850.10:c.263_265del MANE Select ENSP00000358866.3:p.Lys88del
ENST00000369856.8:c.182_184del ENSP00000358872.4:p.Lys61del
ENST00000422373.6:c.263_265del ENSP00000416926.2:p.Lys88del
ENST00000610817.5:c.263_265del ENSP00000480593.2:p.Lys88del
ENST00000676696.1:c.263_265del ENSP00000503392.1:p.Lys88del
ENST00000344736.8:c.263_265del ENSP00000358863.3:p.Lys88del
ENST00000360319.8:c.263_265del ENSP00000353467.4:p.Lys88del
ENST00000369850.7:c.263_265del ENSP00000358866.3:p.Lys88del
ENST00000369856.7:c.182_184del ENSP00000358872.4:p.Lys61del
ENST00000420627.5:c.221_223del ENSP00000408921.1:p.Lys74del
ENST00000422373.5:c.263_265del ENSP00000416926.1:p.Lys88del
ENST00000610817.4:c.182_184del ENSP00000480593.1:p.Lys61del
NM_001110556.1:c.263_265del NP_001104026.1:p.Lys88del
NM_001456.3:c.263_265del NP_001447.2:p.Lys88del
XM_011531127.1:c.263_265del XP_011529429.1:p.Lys88del
XM_011531128.1:c.263_265del XP_011529430.1:p.Lys88del
XM_011531129.1:c.263_265del XP_011529431.1:p.Lys88del
XM_011531130.1:c.263_265del XP_011529432.1:p.Lys88del
XM_011531131.1:c.263_265del XP_011529433.1:p.Lys88del
NM_001110556.2:c.263_265del MANE Select NP_001104026.1:p.Lys88del
NM_001456.4:c.263_265del NP_001447.2:p.Lys88del