Canonical Allele Identifier: CA341845
Gene: FLNB HGNC NCBI

Linked Data

ClinVar Variation Id: 21284
ClinVar RCV Id: RCV000020447
dbSNP Id: rs80356498

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58136054_58136056del , CM000665.2:g.58136054_58136056del GRCh38
NC_000003.11:g.58121781_58121783del , CM000665.1:g.58121781_58121783del GRCh37
NC_000003.10:g.58096821_58096823del NCBI36
NG_012801.1:g.132655_132657del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682297.1:n.171_173del
ENST00000682868.1:n.6789_6791del
ENST00000682871.1:c.4840_4842del ENSP00000507805.1:p.Asp1614del
ENST00000684506.1:c.*3372_*3374del ENSP00000507728.1:n.*3372_*3374del
ENST00000684607.1:c.4840_4842del ENSP00000508224.1:p.Asp1614del
ENST00000295956.9:c.4747_4749del MANE Select ENSP00000295956.5:p.Asp1583del
ENST00000295956.8:c.4747_4749del ENSP00000295956.4:p.Asp1583del
ENST00000358537.7:c.4747_4749del ENSP00000351339.3:p.Asp1583del
ENST00000429972.6:c.4747_4749del ENSP00000415599.2:p.Asp1583del
ENST00000481470.5:n.1087_1089del
ENST00000490882.5:c.4840_4842del ENSP00000420213.1:p.Asp1614del
ENST00000493452.5:c.4240_4242del ENSP00000418510.1:p.Asp1414del
NM_001164317.1:c.4840_4842del NP_001157789.1:p.Asp1614del
NM_001164318.1:c.4747_4749del NP_001157790.1:p.Asp1583del
NM_001164319.1:c.4747_4749del NP_001157791.1:p.Asp1583del
NM_001457.3:c.4747_4749del NP_001448.2:p.Asp1583del
XM_005264977.1:c.4840_4842del XP_005265034.1:p.Asp1614del
XM_005264978.1:c.4840_4842del XP_005265035.1:p.Asp1614del
XM_005264981.1:c.4840_4842del XP_005265038.1:p.Asp1614del
XR_940396.1:n.4985_4987del
XM_005264978.2:c.4840_4842del XP_005265035.1:p.Asp1614del
XR_001740065.1:n.4985_4987del
XR_940396.2:n.4985_4987del
NM_001164317.2:c.4840_4842del NP_001157789.1:p.Asp1614del
NM_001164318.2:c.4747_4749del NP_001157790.1:p.Asp1583del
NM_001164319.2:c.4747_4749del NP_001157791.1:p.Asp1583del
NM_001457.4:c.4747_4749del MANE Select NP_001448.2:p.Asp1583del