Canonical Allele Identifier: CA2580612526

Gene: FLNA

Linked Data

• ClinVar Variation Id: 1183008
• ClinVar RCV Id: RCV001540763
• dbSNP Id: rs2148122027

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154371111_154371113del , CM000685.2:g.154371111_154371113del	GRCh38
NC_000023.10:g.153599479_153599481del , CM000685.1:g.153599479_153599481del	GRCh37
NC_000023.9:g.153252673_153252675del	NCBI36
NG_008677.1:g.1684_1686del , LRG_745:g.1684_1686del
NG_011506.1:g.8529_8531del
NG_011506.2:g.8529_8531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360319.9:c.136_138del	ENSP00000353467.4:p.Gln46del
ENST00000369850.10:c.136_138del MANE Select	ENSP00000358866.3:p.Gln46del
ENST00000369856.8:c.55_57del	ENSP00000358872.4:p.Gln19del
ENST00000422373.6:c.136_138del	ENSP00000416926.2:p.Gln46del
ENST00000610817.5:c.136_138del	ENSP00000480593.2:p.Gln46del
ENST00000676696.1:c.136_138del	ENSP00000503392.1:p.Gln46del
ENST00000344736.8:c.136_138del	ENSP00000358863.3:p.Gln46del
ENST00000360319.8:c.136_138del	ENSP00000353467.4:p.Gln46del
ENST00000369850.7:c.136_138del	ENSP00000358866.3:p.Gln46del
ENST00000369856.7:c.55_57del	ENSP00000358872.4:p.Gln19del
ENST00000420627.5:c.94_96del	ENSP00000408921.1:p.Gln32del
ENST00000422373.5:c.136_138del	ENSP00000416926.1:p.Gln46del
ENST00000610817.4:c.55_57del	ENSP00000480593.1:p.Gln19del
NM_001110556.1:c.136_138del	NP_001104026.1:p.Gln46del
NM_001456.3:c.136_138del	NP_001447.2:p.Gln46del
XM_011531127.1:c.136_138del	XP_011529429.1:p.Gln46del
XM_011531128.1:c.136_138del	XP_011529430.1:p.Gln46del
XM_011531129.1:c.136_138del	XP_011529431.1:p.Gln46del
XM_011531130.1:c.136_138del	XP_011529432.1:p.Gln46del
XM_011531131.1:c.136_138del	XP_011529433.1:p.Gln46del
NM_001110556.2:c.136_138del MANE Select	NP_001104026.1:p.Gln46del
NM_001456.4:c.136_138del	NP_001447.2:p.Gln46del