Canonical Allele Identifier: CA2580614269
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2565513
ClinVar RCV Id: RCV003301922
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128841350_128841351delinsAA , CM000669.2:g.128841350_128841351delinsAA GRCh38
NC_000007.13:g.128481404_128481405delinsAA , CM000669.1:g.128481404_128481405delinsAA GRCh37
NC_000007.12:g.128268640_128268641delinsAA NCBI36
NG_011807.1:g.15922_15923delinsAA , LRG_870:g.15922_15923delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1994_1995delinsAA MANE Select ENSP00000327145.8:p.Cys665Ter
ENST00000325888.12:c.1994_1995delinsAA ENSP00000327145.8:p.Cys665Ter
ENST00000346177.6:c.1994_1995delinsAA ENSP00000344002.6:p.Cys665Ter
ENST00000388853.3:n.20_21delinsAA
NM_001127487.1:c.1994_1995delinsAA NP_001120959.1:p.Cys665Ter
NM_001458.4:c.1994_1995delinsAA , LRG_870t1:c.1994_1995delinsAA NP_001449.3:p.Cys665Ter
NM_001127487.2:c.1994_1995delinsAA NP_001120959.1:p.Cys665Ter
NM_001458.5:c.1994_1995delinsAA MANE Select NP_001449.3:p.Cys665Ter
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