Linked Data
ClinVar Variation Id:
2165176
ClinVar RCV Id:
RCV003088404
dbSNP Id:
rs755806046
gnomAD v4:
7-128858226-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128858232dup , CM000669.2:g.128858232dup | GRCh38 |
| NC_000007.13:g.128498286dup , CM000669.1:g.128498286dup | GRCh37 |
| NC_000007.12:g.128285522dup | NCBI36 |
| NG_011807.1:g.32804dup , LRG_870:g.32804dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.7990+15dup (FLNC) MANE Select | ENSP00000327145.8:n.7990+15dup | |
| ENST00000325888.12:c.7990+15dup (FLNC) | ENSP00000327145.8:n.7990+15dup | |
| ENST00000346177.6:c.7891+15dup (FLNC) | ENSP00000344002.6:n.7891+15dup | |
| NM_001127487.1:c.7891+15dup (FLNC) | NP_001120959.1:n.7891+15dup | |
| NM_001458.4:c.7990+15dup , LRG_870t1:c.7990+15dup (FLNC) | NP_001449.3:n.7990+15dup | |
| NR_149055.1:n.102+4298dup (FLNC-AS1) | ||
| NM_001127487.2:c.7891+15dup (FLNC) | NP_001120959.1:n.7891+15dup | |
| NM_001458.5:c.7990+15dup (FLNC) MANE Select | NP_001449.3:n.7990+15dup |