Canonical Allele Identifier: CA10560903

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1012298
• ClinVar RCV Id: RCV001594420
• dbSNP Id: rs782312089
• ExAC: X:153590823 G / GC
• gnomAD v4: X-154362455-G-GC
• MyVariant Identifiers: chrX:g.153590823_153590824insC (hg19) ; chrX:g.154362455_154362456insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154362461dup , CM000685.2:g.154362461dup	GRCh38
NC_000023.10:g.153590829dup , CM000685.1:g.153590829dup	GRCh37
NC_000023.9:g.153244023dup	NCBI36
NG_011506.1:g.17183dup
NG_011506.2:g.17183dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.2527dup	ENSP00000353467.4:p.Ala843GlyfsTer12
ENST00000369850.10:c.2527dup MANE Select	ENSP00000358866.3:p.Ala843GlyfsTer12
ENST00000369856.8:c.2446dup	ENSP00000358872.4:p.Ala816GlyfsTer12
ENST00000422373.6:c.2527dup	ENSP00000416926.2:p.Ala843GlyfsTer12
ENST00000610817.5:c.2584dup	ENSP00000480593.2:n.2584dup
ENST00000673639.2:c.279+2980dup
ENST00000676696.1:c.2806dup	ENSP00000503392.1:n.2806dup
ENST00000344736.8:c.2527dup	ENSP00000358863.3:p.Ala843GlyfsTer12
ENST00000360319.8:c.2527dup	ENSP00000353467.4:p.Ala843GlyfsTer12
ENST00000369850.7:c.2527dup	ENSP00000358866.3:p.Ala843GlyfsTer12
ENST00000369856.7:c.2446dup	ENSP00000358872.4:p.Ala816GlyfsTer12
ENST00000420627.5:c.2483dup	ENSP00000408921.1:n.2483dup
ENST00000422373.5:c.2527dup	ENSP00000416926.1:p.Ala843GlyfsTer12
ENST00000610817.4:c.2446dup	ENSP00000480593.1:p.Ala816GlyfsTer12
NM_001110556.1:c.2527dup	NP_001104026.1:p.Ala843GlyfsTer12
NM_001456.3:c.2527dup	NP_001447.2:p.Ala843GlyfsTer12
XM_011531127.1:c.2527dup	XP_011529429.1:p.Ala843GlyfsTer12
XM_011531128.1:c.2527dup	XP_011529430.1:p.Ala843GlyfsTer12
XM_011531129.1:c.2527dup	XP_011529431.1:p.Ala843GlyfsTer12
XM_011531130.1:c.2527dup	XP_011529432.1:p.Ala843GlyfsTer12
XM_011531131.1:c.2326dup	XP_011529433.1:p.Ala776GlyfsTer12
NM_001110556.2:c.2527dup MANE Select	NP_001104026.1:p.Ala843GlyfsTer12
NM_001456.4:c.2527dup	NP_001447.2:p.Ala843GlyfsTer12