Canonical Allele Identifier: CA274744

Gene: FLNA

Linked Data

• ClinVar Variation Id: 190200
• ClinVar RCV Id: RCV000170421
• dbSNP Id: rs786205199
• MyVariant Identifiers: chrX:g.153583388_153583389del (hg19) ; chrX:g.154355020_154355021del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154355022_154355023del , CM000685.2:g.154355022_154355023del	GRCh38
NC_000023.10:g.153583390_153583391del , CM000685.1:g.153583390_153583391del	GRCh37
NC_000023.9:g.153236584_153236585del	NCBI36
NG_011506.1:g.24618_24619del
NG_011506.2:g.24618_24619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.4997_4998del	ENSP00000353467.4:p.Val1666GlyfsTer3
ENST00000369850.10:c.5021_5022del MANE Select	ENSP00000358866.3:p.Val1674GlyfsTer3
ENST00000369856.8:c.4940_4941del	ENSP00000358872.4:p.Val1647GlyfsTer3
ENST00000422373.6:c.3161-2346_3161-2345del	ENSP00000416926.2:n.3161-2346_3161-2345del
ENST00000610817.5:c.5078_5079del	ENSP00000480593.2:n.5078_5079del
ENST00000673639.2:c.280-6331_280-6330del
ENST00000676696.1:c.5300_5301del	ENSP00000503392.1:n.5300_5301del
ENST00000678304.1:n.200_201del
ENST00000344736.8:c.4997_4998del	ENSP00000358863.3:p.Val1666GlyfsTer3
ENST00000360319.8:c.4997_4998del	ENSP00000353467.4:p.Val1666GlyfsTer3
ENST00000369850.7:c.5021_5022del	ENSP00000358866.3:p.Val1674GlyfsTer3
ENST00000369856.7:c.4940_4941del	ENSP00000358872.4:p.Val1647GlyfsTer3
ENST00000420627.5:c.4977_4978del	ENSP00000408921.1:n.4977_4978del
ENST00000422373.5:c.4997_4998del	ENSP00000416926.1:p.Val1666GlyfsTer3
ENST00000490936.5:n.1010_1011del
ENST00000610817.4:c.4940_4941del	ENSP00000480593.1:p.Val1647GlyfsTer3
NM_001110556.1:c.5021_5022del	NP_001104026.1:p.Val1674GlyfsTer3
NM_001456.3:c.4997_4998del	NP_001447.2:p.Val1666GlyfsTer3
XM_011531127.1:c.5021_5022del	XP_011529429.1:p.Val1674GlyfsTer3
XM_011531128.1:c.4997_4998del	XP_011529430.1:p.Val1666GlyfsTer3
XM_011531129.1:c.5021_5022del	XP_011529431.1:p.Val1674GlyfsTer3
XM_011531130.1:c.4997_4998del	XP_011529432.1:p.Val1666GlyfsTer3
XM_011531131.1:c.4820_4821del	XP_011529433.1:p.Val1607GlyfsTer3
NM_001110556.2:c.5021_5022del MANE Select	NP_001104026.1:p.Val1674GlyfsTer3
NM_001456.4:c.4997_4998del	NP_001447.2:p.Val1666GlyfsTer3