Canonical Allele Identifier: CA2573141645
Gene: FLNC HGNC NCBI
FLNC-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1674710
dbSNP Id: rs2128940705

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128858463_128858466delinsTATC , CM000669.2:g.128858463_128858466delinsTATC GRCh38
NC_000007.13:g.128498517_128498520delinsTATC , CM000669.1:g.128498517_128498520delinsTATC GRCh37
NC_000007.12:g.128285753_128285756delinsTATC NCBI36
NG_011807.1:g.33035_33038delinsTATC , LRG_870:g.33035_33038delinsTATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000325888.13:c.8118_8121delinsTATC (FLNC) MANE Select ENSP00000327145.8:p.Leu2706=
ENST00000325888.12:c.8118_8121delinsTATC (FLNC) ENSP00000327145.8:p.Leu2706=
ENST00000346177.6:c.8019_8022delinsTATC (FLNC) ENSP00000344002.6:p.Leu2673=
NM_001127487.1:c.8019_8022delinsTATC (FLNC) NP_001120959.1:p.Leu2673=
NM_001458.4:c.8118_8121delinsTATC , LRG_870t1:c.8118_8121delinsTATC (FLNC) NP_001449.3:p.Leu2706=
NR_149055.1:n.102+4059_102+4062delinsGATA (FLNC-AS1)
NM_001127487.2:c.8019_8022delinsTATC (FLNC) NP_001120959.1:p.Leu2673=
NM_001458.5:c.8118_8121delinsTATC (FLNC) MANE Select NP_001449.3:p.Leu2706=