Canonical Allele Identifier: CA2740097534
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2953852
ClinVar RCV Id: RCV003813075
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128837502del , CM000669.2:g.128837502del GRCh38
NC_000007.13:g.128477556del , CM000669.1:g.128477556del GRCh37
NC_000007.12:g.128264792del NCBI36
NG_011807.1:g.12074del , LRG_870:g.12074del

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.804del MANE Select ENSP00000327145.8:p.Arg269AspfsTer5
ENST00000325888.12:c.804del ENSP00000327145.8:p.Arg269AspfsTer5
ENST00000346177.6:c.804del ENSP00000344002.6:p.Arg269AspfsTer5
NM_001127487.1:c.804del NP_001120959.1:p.Arg269AspfsTer5
NM_001458.4:c.804del , LRG_870t1:c.804del NP_001449.3:p.Arg269AspfsTer5
NM_001127487.2:c.804del NP_001120959.1:p.Arg269AspfsTer5
NM_001458.5:c.804del MANE Select NP_001449.3:p.Arg269AspfsTer5
Search 100 bp 5'
Search 100 bp 3'