Canonical Allele Identifier: CA2499226488

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1069630
• ClinVar RCV Id: RCV001381558
• dbSNP Id: rs2148121859

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154370912_154370913insCGACACGTTCTCC , CM000685.2:g.154370912_154370913insCGACACGTTCTCC	GRCh38
NC_000023.10:g.153599280_153599281insCGACACGTTCTCC , CM000685.1:g.153599280_153599281insCGACACGTTCTCC	GRCh37
NC_000023.9:g.153252474_153252475insCGACACGTTCTCC	NCBI36
NG_008677.1:g.1485_1486insCGACACGTTCTCC , LRG_745:g.1485_1486insCGACACGTTCTCC
NG_011506.1:g.8727_8728insGAGAACGTGTCGG
NG_011506.2:g.8727_8728insGAGAACGTGTCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.334_335insGAGAACGTGTCGG	ENSP00000353467.4:p.Glu112GlyfsTer?
ENST00000369850.10:c.334_335insGAGAACGTGTCGG MANE Select	ENSP00000358866.3:p.Glu112GlyfsTer?
ENST00000369856.8:c.253_254insGAGAACGTGTCGG	ENSP00000358872.4:p.Glu85GlyfsTer?
ENST00000422373.6:c.334_335insGAGAACGTGTCGG	ENSP00000416926.2:p.Glu112GlyfsTer?
ENST00000610817.5:c.334_335insGAGAACGTGTCGG	ENSP00000480593.2:p.Glu112GlyfsTer?
ENST00000676696.1:c.334_335insGAGAACGTGTCGG	ENSP00000503392.1:p.Glu112GlyfsTer?
ENST00000344736.8:c.334_335insGAGAACGTGTCGG	ENSP00000358863.3:p.Glu112GlyfsTer?
ENST00000360319.8:c.334_335insGAGAACGTGTCGG	ENSP00000353467.4:p.Glu112GlyfsTer?
ENST00000369850.7:c.334_335insGAGAACGTGTCGG	ENSP00000358866.3:p.Glu112GlyfsTer?
ENST00000369856.7:c.253_254insGAGAACGTGTCGG	ENSP00000358872.4:p.Glu85GlyfsTer?
ENST00000420627.5:c.292_293insGAGAACGTGTCGG	ENSP00000408921.1:p.Glu98GlyfsTer?
ENST00000422373.5:c.334_335insGAGAACGTGTCGG	ENSP00000416926.1:p.Glu112GlyfsTer?
ENST00000610817.4:c.253_254insGAGAACGTGTCGG	ENSP00000480593.1:p.Glu85GlyfsTer?
NM_001110556.1:c.334_335insGAGAACGTGTCGG	NP_001104026.1:p.Glu112GlyfsTer?
NM_001456.3:c.334_335insGAGAACGTGTCGG	NP_001447.2:p.Glu112GlyfsTer?
XM_011531127.1:c.334_335insGAGAACGTGTCGG	XP_011529429.1:p.Glu112GlyfsTer?
XM_011531128.1:c.334_335insGAGAACGTGTCGG	XP_011529430.1:p.Glu112GlyfsTer?
XM_011531129.1:c.334_335insGAGAACGTGTCGG	XP_011529431.1:p.Glu112GlyfsTer?
XM_011531130.1:c.334_335insGAGAACGTGTCGG	XP_011529432.1:p.Glu112GlyfsTer?
XM_011531131.1:c.334_335insGAGAACGTGTCGG	XP_011529433.1:p.Glu112GlyfsTer?
NM_001110556.2:c.334_335insGAGAACGTGTCGG MANE Select	NP_001104026.1:p.Glu112GlyfsTer?
NM_001456.4:c.334_335insGAGAACGTGTCGG	NP_001447.2:p.Glu112GlyfsTer?