Canonical Allele Identifier: CA2740094839
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2954439
ClinVar RCV Id: RCV003813662
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128847946del , CM000669.2:g.128847946del GRCh38
NC_000007.13:g.128488000del , CM000669.1:g.128488000del GRCh37
NC_000007.12:g.128275236del NCBI36
NG_011807.1:g.22518del , LRG_870:g.22518del

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.4458del MANE Select ENSP00000327145.8:p.Val1487TrpfsTer29
ENST00000325888.12:c.4458del ENSP00000327145.8:p.Val1487TrpfsTer29
ENST00000346177.6:c.4458del ENSP00000344002.6:p.Val1487TrpfsTer29
NM_001127487.1:c.4458del NP_001120959.1:p.Val1487TrpfsTer29
NM_001458.4:c.4458del , LRG_870t1:c.4458del NP_001449.3:p.Val1487TrpfsTer29
NM_001127487.2:c.4458del NP_001120959.1:p.Val1487TrpfsTer29
NM_001458.5:c.4458del MANE Select NP_001449.3:p.Val1487TrpfsTer29
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