Canonical Allele Identifier: CA274749
Gene: FLNA HGNC NCBI

Linked Data

ClinVar Variation Id: 190204
ClinVar RCV Id: RCV000170425
dbSNP Id: rs786205203
MyVariant Identifiers: chrX:g.153595901dupG (hg19) chrX:g.153595900_153595901insG (hg19) chrX:g.154367533dupG (hg38) chrX:g.154367532_154367533insG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154367537dup , CM000685.2:g.154367537dup GRCh38
NC_000023.10:g.153595905dup , CM000685.1:g.153595905dup GRCh37
NC_000023.9:g.153249099dup NCBI36
NG_011506.1:g.12106dup
NG_011506.2:g.12106dup

Transcript Alleles

HGVS Amino-acid change
ENST00000360319.9:c.732dup ENSP00000353467.4:p.Glu245ArgfsTer?
ENST00000369850.10:c.732dup MANE Select ENSP00000358866.3:p.Glu245ArgfsTer?
ENST00000369856.8:c.651dup ENSP00000358872.4:p.Glu218ArgfsTer?
ENST00000422373.6:c.732dup ENSP00000416926.2:p.Glu245ArgfsTer?
ENST00000610817.5:c.732dup ENSP00000480593.2:p.Glu245ArgfsTer?
ENST00000676696.1:c.732dup ENSP00000503392.1:p.Glu245ArgfsTer?
ENST00000344736.8:c.732dup ENSP00000358863.3:p.Glu245ArgfsTer?
ENST00000360319.8:c.732dup ENSP00000353467.4:p.Glu245ArgfsTer?
ENST00000369850.7:c.732dup ENSP00000358866.3:p.Glu245ArgfsTer?
ENST00000369856.7:c.651dup ENSP00000358872.4:p.Glu218ArgfsTer?
ENST00000420627.5:c.690dup ENSP00000408921.1:p.Glu231ArgfsTer?
ENST00000422373.5:c.732dup ENSP00000416926.1:p.Glu245ArgfsTer?
ENST00000610817.4:c.651dup ENSP00000480593.1:p.Glu218ArgfsTer?
NM_001110556.1:c.732dup NP_001104026.1:p.Glu245ArgfsTer?
NM_001456.3:c.732dup NP_001447.2:p.Glu245ArgfsTer?
XM_011531127.1:c.732dup XP_011529429.1:p.Glu245ArgfsTer?
XM_011531128.1:c.732dup XP_011529430.1:p.Glu245ArgfsTer?
XM_011531129.1:c.732dup XP_011529431.1:p.Glu245ArgfsTer?
XM_011531130.1:c.732dup XP_011529432.1:p.Glu245ArgfsTer?
XM_011531131.1:c.732dup XP_011529433.1:p.Glu245ArgfsTer?
NM_001110556.2:c.732dup MANE Select NP_001104026.1:p.Glu245ArgfsTer?
NM_001456.4:c.732dup NP_001447.2:p.Glu245ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'