Canonical Allele Identifier: CA16621254
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 421766
ClinVar RCV Id: RCV000479429
dbSNP Id: rs1064795350
MyVariant Identifiers: chrX:g.153591066_153591067insA (hg19) chrX:g.154362698_154362699insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154362698_154362699insA , CM000685.2:g.154362698_154362699insA GRCh38
NC_000023.10:g.153591066_153591067insA , CM000685.1:g.153591066_153591067insA GRCh37
NC_000023.9:g.153244260_153244261insA NCBI36
NG_011506.1:g.16940_16941insT
NG_011506.2:g.16940_16941insT

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.2366_2367insT ENSP00000353467.4:p.Thr790HisfsTer?
ENST00000369850.10:c.2366_2367insT MANE Select ENSP00000358866.3:p.Thr790HisfsTer?
ENST00000369856.8:c.2285_2286insT ENSP00000358872.4:p.Thr763HisfsTer?
ENST00000422373.6:c.2366_2367insT ENSP00000416926.2:p.Thr790HisfsTer?
ENST00000610817.5:c.2423_2424insT ENSP00000480593.2:n.2423_2424insT
ENST00000673639.2:c.279+2737_279+2738insT
ENST00000676696.1:c.2645_2646insT ENSP00000503392.1:n.2645_2646insT
ENST00000344736.8:c.2366_2367insT ENSP00000358863.3:p.Thr790HisfsTer?
ENST00000360319.8:c.2366_2367insT ENSP00000353467.4:p.Thr790HisfsTer?
ENST00000369850.7:c.2366_2367insT ENSP00000358866.3:p.Thr790HisfsTer?
ENST00000369856.7:c.2285_2286insT ENSP00000358872.4:p.Thr763HisfsTer?
ENST00000420627.5:c.2322_2323insT ENSP00000408921.1:n.2322_2323insT
ENST00000422373.5:c.2366_2367insT ENSP00000416926.1:p.Thr790HisfsTer?
ENST00000610817.4:c.2285_2286insT ENSP00000480593.1:p.Thr763HisfsTer?
NM_001110556.1:c.2366_2367insT NP_001104026.1:p.Thr790HisfsTer?
NM_001456.3:c.2366_2367insT NP_001447.2:p.Thr790HisfsTer?
XM_011531127.1:c.2366_2367insT XP_011529429.1:p.Thr790HisfsTer?
XM_011531128.1:c.2366_2367insT XP_011529430.1:p.Thr790HisfsTer?
XM_011531129.1:c.2366_2367insT XP_011529431.1:p.Thr790HisfsTer?
XM_011531130.1:c.2366_2367insT XP_011529432.1:p.Thr790HisfsTer?
XM_011531131.1:c.2165_2166insT XP_011529433.1:p.Thr723HisfsTer?
NM_001110556.2:c.2366_2367insT MANE Select NP_001104026.1:p.Thr790HisfsTer?
NM_001456.4:c.2366_2367insT NP_001447.2:p.Thr790HisfsTer?
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