Canonical Allele Identifier: CA2580101776

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1697309
• ClinVar RCV Id: RCV002267691
• dbSNP Id: rs2148114607

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154362663_154362664insAG , CM000685.2:g.154362663_154362664insAG	GRCh38
NC_000023.10:g.153591031_153591032insAG , CM000685.1:g.153591031_153591032insAG	GRCh37
NC_000023.9:g.153244225_153244226insAG	NCBI36
NG_011506.1:g.16975_16976insCT
NG_011506.2:g.16975_16976insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.2401_2402insCT	ENSP00000353467.4:p.Gln801ProfsTer16
ENST00000369850.10:c.2401_2402insCT MANE Select	ENSP00000358866.3:p.Gln801ProfsTer16
ENST00000369856.8:c.2320_2321insCT	ENSP00000358872.4:p.Gln774ProfsTer16
ENST00000422373.6:c.2401_2402insCT	ENSP00000416926.2:p.Gln801ProfsTer16
ENST00000610817.5:c.2458_2459insCT	ENSP00000480593.2:n.2458_2459insCT
ENST00000673639.2:c.279+2772_279+2773insCT
ENST00000676696.1:c.2680_2681insCT	ENSP00000503392.1:n.2680_2681insCT
ENST00000344736.8:c.2401_2402insCT	ENSP00000358863.3:p.Gln801ProfsTer16
ENST00000360319.8:c.2401_2402insCT	ENSP00000353467.4:p.Gln801ProfsTer16
ENST00000369850.7:c.2401_2402insCT	ENSP00000358866.3:p.Gln801ProfsTer16
ENST00000369856.7:c.2320_2321insCT	ENSP00000358872.4:p.Gln774ProfsTer16
ENST00000420627.5:c.2357_2358insCT	ENSP00000408921.1:n.2357_2358insCT
ENST00000422373.5:c.2401_2402insCT	ENSP00000416926.1:p.Gln801ProfsTer16
ENST00000610817.4:c.2320_2321insCT	ENSP00000480593.1:p.Gln774ProfsTer16
NM_001110556.1:c.2401_2402insCT	NP_001104026.1:p.Gln801ProfsTer16
NM_001456.3:c.2401_2402insCT	NP_001447.2:p.Gln801ProfsTer16
XM_011531127.1:c.2401_2402insCT	XP_011529429.1:p.Gln801ProfsTer16
XM_011531128.1:c.2401_2402insCT	XP_011529430.1:p.Gln801ProfsTer16
XM_011531129.1:c.2401_2402insCT	XP_011529431.1:p.Gln801ProfsTer16
XM_011531130.1:c.2401_2402insCT	XP_011529432.1:p.Gln801ProfsTer16
XM_011531131.1:c.2200_2201insCT	XP_011529433.1:p.Gln734ProfsTer16
NM_001110556.2:c.2401_2402insCT MANE Select	NP_001104026.1:p.Gln801ProfsTer16
NM_001456.4:c.2401_2402insCT	NP_001447.2:p.Gln801ProfsTer16