Canonical Allele Identifier: CA10605292
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 285920
ClinVar RCV Id: RCV000348703
dbSNP Id: rs1057515582

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154362725_154362726insTT , CM000685.2:g.154362725_154362726insTT GRCh38
NC_000023.10:g.153591093_153591094insTT , CM000685.1:g.153591093_153591094insTT GRCh37
NC_000023.9:g.153244287_153244288insTT NCBI36
NG_011506.1:g.16913_16914insAA
NG_011506.2:g.16913_16914insAA

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.2339_2340insAA ENSP00000353467.4:p.Lys781ThrfsTer?
ENST00000369850.10:c.2339_2340insAA MANE Select ENSP00000358866.3:p.Lys781ThrfsTer?
ENST00000369856.8:c.2258_2259insAA ENSP00000358872.4:p.Lys754ThrfsTer?
ENST00000422373.6:c.2339_2340insAA ENSP00000416926.2:p.Lys781ThrfsTer?
ENST00000610817.5:c.2396_2397insAA ENSP00000480593.2:n.2396_2397insAA
ENST00000673639.2:c.279+2710_279+2711insAA
ENST00000676696.1:c.2618_2619insAA ENSP00000503392.1:n.2618_2619insAA
ENST00000344736.8:c.2339_2340insAA ENSP00000358863.3:p.Lys781ThrfsTer?
ENST00000360319.8:c.2339_2340insAA ENSP00000353467.4:p.Lys781ThrfsTer?
ENST00000369850.7:c.2339_2340insAA ENSP00000358866.3:p.Lys781ThrfsTer?
ENST00000369856.7:c.2258_2259insAA ENSP00000358872.4:p.Lys754ThrfsTer?
ENST00000420627.5:c.2295_2296insAA ENSP00000408921.1:n.2295_2296insAA
ENST00000422373.5:c.2339_2340insAA ENSP00000416926.1:p.Lys781ThrfsTer?
ENST00000610817.4:c.2258_2259insAA ENSP00000480593.1:p.Lys754ThrfsTer?
NM_001110556.1:c.2339_2340insAA NP_001104026.1:p.Lys781ThrfsTer?
NM_001456.3:c.2339_2340insAA NP_001447.2:p.Lys781ThrfsTer?
XM_011531127.1:c.2339_2340insAA XP_011529429.1:p.Lys781ThrfsTer?
XM_011531128.1:c.2339_2340insAA XP_011529430.1:p.Lys781ThrfsTer?
XM_011531129.1:c.2339_2340insAA XP_011529431.1:p.Lys781ThrfsTer?
XM_011531130.1:c.2339_2340insAA XP_011529432.1:p.Lys781ThrfsTer?
XM_011531131.1:c.2138_2139insAA XP_011529433.1:p.Lys714ThrfsTer?
NM_001110556.2:c.2339_2340insAA MANE Select NP_001104026.1:p.Lys781ThrfsTer?
NM_001456.4:c.2339_2340insAA NP_001447.2:p.Lys781ThrfsTer?