Canonical Allele Identifier: CA434041036
Gene: FLNB HGNC NCBI

Linked Data

dbSNP Id: rs2097315356
MyVariant Identifiers: chr3:g.58121817del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58136094del , CM000665.2:g.58136094del GRCh38
NC_000003.11:g.58121821del , CM000665.1:g.58121821del GRCh37
NC_000003.10:g.58096861del NCBI36
NG_012801.1:g.132695del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682297.1:n.211del
ENST00000682868.1:n.6829del
ENST00000682871.1:c.4880del ENSP00000507805.1:p.Gly1627ValfsTer?
ENST00000684506.1:c.*3412del ENSP00000507728.1:n.*3412del
ENST00000684607.1:c.4880del ENSP00000508224.1:p.Gly1627ValfsTer?
ENST00000295956.9:c.4787del MANE Select ENSP00000295956.5:p.Gly1596ValfsTer?
ENST00000295956.8:c.4787del ENSP00000295956.4:p.Gly1596ValfsTer?
ENST00000358537.7:c.4787del ENSP00000351339.3:p.Gly1596ValfsTer?
ENST00000429972.6:c.4787del ENSP00000415599.2:p.Gly1596ValfsTer?
ENST00000481470.5:n.1127del
ENST00000490882.5:c.4880del ENSP00000420213.1:p.Gly1627ValfsTer?
ENST00000493452.5:c.4280del ENSP00000418510.1:p.Gly1427ValfsTer?
NM_001164317.1:c.4880del NP_001157789.1:p.Gly1627ValfsTer?
NM_001164318.1:c.4787del NP_001157790.1:p.Gly1596ValfsTer?
NM_001164319.1:c.4787del NP_001157791.1:p.Gly1596ValfsTer?
NM_001457.3:c.4787del NP_001448.2:p.Gly1596ValfsTer?
XM_005264977.1:c.4880del XP_005265034.1:p.Gly1627ValfsTer?
XM_005264978.1:c.4880del XP_005265035.1:p.Gly1627ValfsTer?
XM_005264981.1:c.4880del XP_005265038.1:p.Gly1627ValfsTer?
XR_940396.1:n.5025del
XM_005264978.2:c.4880del XP_005265035.1:p.Gly1627ValfsTer?
XR_001740065.1:n.5025del
XR_940396.2:n.5025del
NM_001164317.2:c.4880del NP_001157789.1:p.Gly1627ValfsTer?
NM_001164318.2:c.4787del NP_001157790.1:p.Gly1596ValfsTer?
NM_001164319.2:c.4787del NP_001157791.1:p.Gly1596ValfsTer?
NM_001457.4:c.4787del MANE Select NP_001448.2:p.Gly1596ValfsTer?