Canonical Allele Identifier: CA274743

Gene: FLNA

Linked Data

• ClinVar Variation Id: 190199
• ClinVar RCV Id: RCV000170420
• dbSNP Id: rs786205198
• MyVariant Identifiers: chrX:g.153585804del (hg19) ; chrX:g.154357436del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154357436del , CM000685.2:g.154357436del	GRCh38
NC_000023.10:g.153585804del , CM000685.1:g.153585804del	GRCh37
NC_000023.9:g.153238998del	NCBI36
NG_011506.1:g.22203del
NG_011506.2:g.22203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.4943del	ENSP00000353467.4:p.Thr1648LysfsTer16
ENST00000369850.10:c.4943del MANE Select	ENSP00000358866.3:p.Thr1648LysfsTer9
ENST00000369856.8:c.4862del	ENSP00000358872.4:p.Thr1621LysfsTer9
ENST00000422373.6:c.3160+3919del	ENSP00000416926.2:n.3160+3919del
ENST00000610817.5:c.5000del	ENSP00000480593.2:n.5000del
ENST00000673639.2:c.279+8000del
ENST00000676696.1:c.5222del	ENSP00000503392.1:n.5222del
ENST00000678304.1:n.148+1653del
ENST00000344736.8:c.4943del	ENSP00000358863.3:p.Thr1648LysfsTer16
ENST00000360319.8:c.4943del	ENSP00000353467.4:p.Thr1648LysfsTer16
ENST00000369850.7:c.4943del	ENSP00000358866.3:p.Thr1648LysfsTer9
ENST00000369856.7:c.4862del	ENSP00000358872.4:p.Thr1621LysfsTer9
ENST00000420627.5:c.4899del	ENSP00000408921.1:n.4899del
ENST00000422373.5:c.4943del	ENSP00000416926.1:p.Thr1648LysfsTer16
ENST00000490936.5:n.956del
ENST00000610817.4:c.4862del	ENSP00000480593.1:p.Thr1621LysfsTer9
NM_001110556.1:c.4943del	NP_001104026.1:p.Thr1648LysfsTer9
NM_001456.3:c.4943del	NP_001447.2:p.Thr1648LysfsTer16
XM_011531127.1:c.4943del	XP_011529429.1:p.Thr1648LysfsTer9
XM_011531128.1:c.4943del	XP_011529430.1:p.Thr1648LysfsTer16
XM_011531129.1:c.4943del	XP_011529431.1:p.Thr1648LysfsTer9
XM_011531130.1:c.4943del	XP_011529432.1:p.Thr1648LysfsTer16
XM_011531131.1:c.4742del	XP_011529433.1:p.Thr1581LysfsTer9
NM_001110556.2:c.4943del MANE Select	NP_001104026.1:p.Thr1648LysfsTer9
NM_001456.4:c.4943del	NP_001447.2:p.Thr1648LysfsTer16