Canonical Allele Identifier: CA915945519
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 817766
ClinVar RCV Id: RCV001008981 RCV001388841
dbSNP Id: rs1585156450
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128841321_128841322del , CM000669.2:g.128841321_128841322del GRCh38
NC_000007.13:g.128481375_128481376del , CM000669.1:g.128481375_128481376del GRCh37
NC_000007.12:g.128268611_128268612del NCBI36
NG_011807.1:g.15893_15894del , LRG_870:g.15893_15894del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1965_1966del MANE Select ENSP00000327145.8:p.Ala656ProfsTer8
ENST00000325888.12:c.1965_1966del ENSP00000327145.8:p.Ala656ProfsTer8
ENST00000346177.6:c.1965_1966del ENSP00000344002.6:p.Ala656ProfsTer8
NM_001127487.1:c.1965_1966del NP_001120959.1:p.Ala656ProfsTer8
NM_001458.4:c.1965_1966del , LRG_870t1:c.1965_1966del NP_001449.3:p.Ala656ProfsTer8
NM_001127487.2:c.1965_1966del NP_001120959.1:p.Ala656ProfsTer8
NM_001458.5:c.1965_1966del MANE Select NP_001449.3:p.Ala656ProfsTer8
Search 100 bp 5'
Search 100 bp 3'