Canonical Allele Identifier: CA658821349
Gene: FLNB HGNC NCBI

Linked Data

ClinVar Variation Id: 559904
ClinVar RCV Id: RCV000677698
dbSNP Id: rs1553703909

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58136075_58136078del , CM000665.2:g.58136075_58136078del GRCh38
NC_000003.11:g.58121802_58121805del , CM000665.1:g.58121802_58121805del GRCh37
NC_000003.10:g.58096842_58096845del NCBI36
NG_012801.1:g.132676_132679del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682297.1:n.192_195del
ENST00000682868.1:n.6810_6813del
ENST00000682871.1:c.4861_4864del ENSP00000507805.1:p.Ile1621GlufsTer?
ENST00000684506.1:c.*3393_*3396del ENSP00000507728.1:n.*3393_*3396del
ENST00000684607.1:c.4861_4864del ENSP00000508224.1:p.Ile1621GlufsTer?
ENST00000295956.9:c.4768_4771del MANE Select ENSP00000295956.5:p.Ile1590GlufsTer?
ENST00000295956.8:c.4768_4771del ENSP00000295956.4:p.Ile1590GlufsTer?
ENST00000358537.7:c.4768_4771del ENSP00000351339.3:p.Ile1590GlufsTer?
ENST00000429972.6:c.4768_4771del ENSP00000415599.2:p.Ile1590GlufsTer?
ENST00000481470.5:n.1108_1111del
ENST00000490882.5:c.4861_4864del ENSP00000420213.1:p.Ile1621GlufsTer?
ENST00000493452.5:c.4261_4264del ENSP00000418510.1:p.Ile1421GlufsTer?
NM_001164317.1:c.4861_4864del NP_001157789.1:p.Ile1621GlufsTer?
NM_001164318.1:c.4768_4771del NP_001157790.1:p.Ile1590GlufsTer?
NM_001164319.1:c.4768_4771del NP_001157791.1:p.Ile1590GlufsTer?
NM_001457.3:c.4768_4771del NP_001448.2:p.Ile1590GlufsTer?
XM_005264977.1:c.4861_4864del XP_005265034.1:p.Ile1621GlufsTer?
XM_005264978.1:c.4861_4864del XP_005265035.1:p.Ile1621GlufsTer?
XM_005264981.1:c.4861_4864del XP_005265038.1:p.Ile1621GlufsTer?
XR_940396.1:n.5006_5009del
XM_005264978.2:c.4861_4864del XP_005265035.1:p.Ile1621GlufsTer?
XR_001740065.1:n.5006_5009del
XR_940396.2:n.5006_5009del
NM_001164317.2:c.4861_4864del NP_001157789.1:p.Ile1621GlufsTer?
NM_001164318.2:c.4768_4771del NP_001157790.1:p.Ile1590GlufsTer?
NM_001164319.2:c.4768_4771del NP_001157791.1:p.Ile1590GlufsTer?
NM_001457.4:c.4768_4771del MANE Select NP_001448.2:p.Ile1590GlufsTer?