Canonical Allele Identifier: CA2740094855
Gene: FLNC HGNC NCBI

Linked Data

ClinVar Variation Id: 2947646
ClinVar RCV Id: RCV003804276
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128846788_128846844del , CM000669.2:g.128846788_128846844del GRCh38
NC_000007.13:g.128486842_128486898del , CM000669.1:g.128486842_128486898del GRCh37
NC_000007.12:g.128274078_128274134del NCBI36
NG_011807.1:g.21360_21416del , LRG_870:g.21360_21416del

Transcript Alleles

HGVS Amino-acid change
ENST00000325888.13:c.4171_4227del MANE Select ENSP00000327145.8:p.Ser1391_Tyr1409del
ENST00000325888.12:c.4171_4227del ENSP00000327145.8:p.Ser1391_Tyr1409del
ENST00000346177.6:c.4171_4227del ENSP00000344002.6:p.Ser1391_Tyr1409del
NM_001127487.1:c.4171_4227del NP_001120959.1:p.Ser1391_Tyr1409del
NM_001458.4:c.4171_4227del , LRG_870t1:c.4171_4227del NP_001449.3:p.Ser1391_Tyr1409del
NM_001127487.2:c.4171_4227del NP_001120959.1:p.Ser1391_Tyr1409del
NM_001458.5:c.4171_4227del MANE Select NP_001449.3:p.Ser1391_Tyr1409del
Search 100 bp 5'
Search 100 bp 3'