Canonical Allele Identifier: CA2580614265
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2562113
ClinVar RCV Id: RCV003310173
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128844930_128844932delinsAAA , CM000669.2:g.128844930_128844932delinsAAA GRCh38
NC_000007.13:g.128484984_128484986delinsAAA , CM000669.1:g.128484984_128484986delinsAAA GRCh37
NC_000007.12:g.128272220_128272222delinsAAA NCBI36
NG_011807.1:g.19502_19504delinsAAA , LRG_870:g.19502_19504delinsAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.3465_3467delinsAAA MANE Select ENSP00000327145.8:p.Ser1156Asn
ENST00000325888.12:c.3465_3467delinsAAA ENSP00000327145.8:p.Ser1156Asn
ENST00000346177.6:c.3465_3467delinsAAA ENSP00000344002.6:p.Ser1156Asn
NM_001127487.1:c.3465_3467delinsAAA NP_001120959.1:p.Ser1156Asn
NM_001458.4:c.3465_3467delinsAAA , LRG_870t1:c.3465_3467delinsAAA NP_001449.3:p.Ser1156Asn
NM_001127487.2:c.3465_3467delinsAAA NP_001120959.1:p.Ser1156Asn
NM_001458.5:c.3465_3467delinsAAA MANE Select NP_001449.3:p.Ser1156Asn
Search 100 bp 5'
Search 100 bp 3'