Canonical Allele Identifier: CA16621256
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 422551
ClinVar RCV Id: RCV000483381
dbSNP Id: rs1064795854

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154364914_154364915delinsT , CM000685.2:g.154364914_154364915delinsT GRCh38
NC_000023.10:g.153593282_153593283delinsT , CM000685.1:g.153593282_153593283delinsT GRCh37
NC_000023.9:g.153246476_153246477delinsT NCBI36
NG_011506.1:g.14724_14725delinsA
NG_011506.2:g.14724_14725delinsA

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.1734_1735delinsA ENSP00000353467.4:p.Val579TyrfsTer?
ENST00000369850.10:c.1734_1735delinsA MANE Select ENSP00000358866.3:p.Val579TyrfsTer?
ENST00000369856.8:c.1653_1654delinsA ENSP00000358872.4:p.Val552TyrfsTer?
ENST00000422373.6:c.1734_1735delinsA ENSP00000416926.2:p.Val579TyrfsTer?
ENST00000610817.5:c.1791_1792delinsA ENSP00000480593.2:n.1791_1792delinsA
ENST00000673639.2:c.279+521_279+522delinsA
ENST00000676696.1:c.2013_2014delinsA ENSP00000503392.1:n.2013_2014delinsA
ENST00000344736.8:c.1734_1735delinsA ENSP00000358863.3:p.Val579TyrfsTer?
ENST00000360319.8:c.1734_1735delinsA ENSP00000353467.4:p.Val579TyrfsTer?
ENST00000369850.7:c.1734_1735delinsA ENSP00000358866.3:p.Val579TyrfsTer?
ENST00000369856.7:c.1653_1654delinsA ENSP00000358872.4:p.Val552TyrfsTer?
ENST00000420627.5:c.1690_1691delinsA ENSP00000408921.1:p.Gly564IlefsTer?
ENST00000422373.5:c.1734_1735delinsA ENSP00000416926.1:p.Val579TyrfsTer?
ENST00000465144.1:n.115_116delinsA
ENST00000610817.4:c.1653_1654delinsA ENSP00000480593.1:p.Val552TyrfsTer?
NM_001110556.1:c.1734_1735delinsA NP_001104026.1:p.Val579TyrfsTer?
NM_001456.3:c.1734_1735delinsA NP_001447.2:p.Val579TyrfsTer?
XM_011531127.1:c.1734_1735delinsA XP_011529429.1:p.Val579TyrfsTer?
XM_011531128.1:c.1734_1735delinsA XP_011529430.1:p.Val579TyrfsTer?
XM_011531129.1:c.1734_1735delinsA XP_011529431.1:p.Val579TyrfsTer?
XM_011531130.1:c.1734_1735delinsA XP_011529432.1:p.Val579TyrfsTer?
XM_011531131.1:c.1533_1534delinsA XP_011529433.1:p.Val512TyrfsTer?
NM_001110556.2:c.1734_1735delinsA MANE Select NP_001104026.1:p.Val579TyrfsTer?
NM_001456.4:c.1734_1735delinsA NP_001447.2:p.Val579TyrfsTer?