Canonical Allele Identifier: CA10560928

Gene: FLNA

Linked Data

• ClinVar Variation Id: 783227
• ClinVar RCV Id: RCV001521259 ; RCV003489982 ; RCV003169481 ; RCV003319429
• dbSNP Id: rs782040815
• ExAC: X:153590950 C / CGGCG
• gnomAD v2: X-153590950-C-CGGCG
• gnomAD v3: X-154362582-C-CGGCG
• gnomAD v4: X-154362582-C-CGGCG
• MyVariant Identifiers: chrX:g.153590950_153590951insGGCG (hg19) ; chrX:g.154362582_154362583insGGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154362585_154362588dup , CM000685.2:g.154362585_154362588dup	GRCh38
NC_000023.10:g.153590953_153590956dup , CM000685.1:g.153590953_153590956dup	GRCh37
NC_000023.9:g.153244147_153244150dup	NCBI36
NG_011506.1:g.17053_17056dup
NG_011506.2:g.17053_17056dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.2405-8_2405-5dup	ENSP00000353467.4:n.2405-8_2405-5dup
ENST00000369850.10:c.2405-8_2405-5dup MANE Select	ENSP00000358866.3:n.2405-8_2405-5dup
ENST00000369856.8:c.2324-8_2324-5dup	ENSP00000358872.4:n.2324-8_2324-5dup
ENST00000422373.6:c.2405-8_2405-5dup	ENSP00000416926.2:n.2405-8_2405-5dup
ENST00000610817.5:c.2462-8_2462-5dup	ENSP00000480593.2:n.2462-8_2462-5dup
ENST00000673639.2:c.279+2850_279+2853dup
ENST00000676696.1:c.2684-8_2684-5dup	ENSP00000503392.1:n.2684-8_2684-5dup
ENST00000344736.8:c.2405-8_2405-5dup	ENSP00000358863.3:n.2405-8_2405-5dup
ENST00000360319.8:c.2405-8_2405-5dup	ENSP00000353467.4:n.2405-8_2405-5dup
ENST00000369850.7:c.2405-8_2405-5dup	ENSP00000358866.3:n.2405-8_2405-5dup
ENST00000369856.7:c.2324-8_2324-5dup	ENSP00000358872.4:n.2324-8_2324-5dup
ENST00000420627.5:c.2361-8_2361-5dup	ENSP00000408921.1:n.2361-8_2361-5dup
ENST00000422373.5:c.2405-8_2405-5dup	ENSP00000416926.1:n.2405-8_2405-5dup
ENST00000610817.4:c.2324-8_2324-5dup	ENSP00000480593.1:n.2324-8_2324-5dup
NM_001110556.1:c.2405-8_2405-5dup	NP_001104026.1:n.2405-8_2405-5dup
NM_001456.3:c.2405-8_2405-5dup	NP_001447.2:n.2405-8_2405-5dup
XM_011531127.1:c.2405-8_2405-5dup	XP_011529429.1:n.2405-8_2405-5dup
XM_011531128.1:c.2405-8_2405-5dup	XP_011529430.1:n.2405-8_2405-5dup
XM_011531129.1:c.2405-8_2405-5dup	XP_011529431.1:n.2405-8_2405-5dup
XM_011531130.1:c.2405-8_2405-5dup	XP_011529432.1:n.2405-8_2405-5dup
XM_011531131.1:c.2204-8_2204-5dup	XP_011529433.1:n.2204-8_2204-5dup
NM_001110556.2:c.2405-8_2405-5dup MANE Select	NP_001104026.1:n.2405-8_2405-5dup
NM_001456.4:c.2405-8_2405-5dup	NP_001447.2:n.2405-8_2405-5dup