Linked Data
dbSNP Id:
rs761612687
ExAC:
7:128497433 G / GCCCAT
gnomAD v2:
7-128497433-G-GCCCAT
gnomAD v4:
7-128857379-G-GCCCAT
MyVariant Identifiers:
chr7:g.128497433_128497434insCCCAT (hg19)
chr7:g.128857379_128857380insCCCAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128857383_128857384insTCCCA , CM000669.2:g.128857383_128857384insTCCCA | GRCh38 |
| NC_000007.13:g.128497437_128497438insTCCCA , CM000669.1:g.128497437_128497438insTCCCA | GRCh37 |
| NC_000007.12:g.128284673_128284674insTCCCA | NCBI36 |
| NG_011807.1:g.31955_31956insTCCCA , LRG_870:g.31955_31956insTCCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.7780+47_7780+48insTCCCA (FLNC) MANE Select | ENSP00000327145.8:n.7780+47_7780+48insTCCCA | |
| ENST00000325888.12:c.7780+47_7780+48insTCCCA (FLNC) | ENSP00000327145.8:n.7780+47_7780+48insTCCCA | |
| ENST00000346177.6:c.7681+47_7681+48insTCCCA (FLNC) | ENSP00000344002.6:n.7681+47_7681+48insTCCCA | |
| NM_001127487.1:c.7681+47_7681+48insTCCCA (FLNC) | NP_001120959.1:n.7681+47_7681+48insTCCCA | |
| NM_001458.4:c.7780+47_7780+48insTCCCA , LRG_870t1:c.7780+47_7780+48insTCCCA (FLNC) | NP_001449.3:n.7780+47_7780+48insTCCCA | |
| NR_149055.1:n.103-3983_103-3982insATGGG (FLNC-AS1) | ||
| NM_001127487.2:c.7681+47_7681+48insTCCCA (FLNC) | NP_001120959.1:n.7681+47_7681+48insTCCCA | |
| NM_001458.5:c.7780+47_7780+48insTCCCA (FLNC) MANE Select | NP_001449.3:n.7780+47_7780+48insTCCCA |