Canonical Allele Identifier: CA2740097552
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2954520
ClinVar RCV Id: RCV003815719
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128841186dup , CM000669.2:g.128841186dup GRCh38
NC_000007.13:g.128481240dup , CM000669.1:g.128481240dup GRCh37
NC_000007.12:g.128268476dup NCBI36
NG_011807.1:g.15758dup , LRG_870:g.15758dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.1830dup MANE Select ENSP00000327145.8:p.Pro611AlafsTer9
ENST00000325888.12:c.1830dup ENSP00000327145.8:p.Pro611AlafsTer9
ENST00000346177.6:c.1830dup ENSP00000344002.6:p.Pro611AlafsTer9
NM_001127487.1:c.1830dup NP_001120959.1:p.Pro611AlafsTer9
NM_001458.4:c.1830dup , LRG_870t1:c.1830dup NP_001449.3:p.Pro611AlafsTer9
NM_001127487.2:c.1830dup NP_001120959.1:p.Pro611AlafsTer9
NM_001458.5:c.1830dup MANE Select NP_001449.3:p.Pro611AlafsTer9
Search 100 bp 5'
Search 100 bp 3'