Linked Data
dbSNP Id:
rs751456369
ExAC:
7:128497425 GCAGCC / G
gnomAD v2:
7-128497425-GCAGCC-G
gnomAD v4:
7-128857371-GCAGCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128857382_128857386del , CM000669.2:g.128857382_128857386del | GRCh38 |
| NC_000007.13:g.128497436_128497440del , CM000669.1:g.128497436_128497440del | GRCh37 |
| NC_000007.12:g.128284672_128284676del | NCBI36 |
| NG_011807.1:g.31954_31958del , LRG_870:g.31954_31958del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.7780+46_7780+50del (FLNC) MANE Select | ENSP00000327145.8:n.7780+46_7780+50del | |
| ENST00000325888.12:c.7780+46_7780+50del (FLNC) | ENSP00000327145.8:n.7780+46_7780+50del | |
| ENST00000346177.6:c.7681+46_7681+50del (FLNC) | ENSP00000344002.6:n.7681+46_7681+50del | |
| NM_001127487.1:c.7681+46_7681+50del (FLNC) | NP_001120959.1:n.7681+46_7681+50del | |
| NM_001458.4:c.7780+46_7780+50del , LRG_870t1:c.7780+46_7780+50del (FLNC) | NP_001449.3:n.7780+46_7780+50del | |
| NR_149055.1:n.103-3979_103-3975del (FLNC-AS1) | ||
| NM_001127487.2:c.7681+46_7681+50del (FLNC) | NP_001120959.1:n.7681+46_7681+50del | |
| NM_001458.5:c.7780+46_7780+50del (FLNC) MANE Select | NP_001449.3:n.7780+46_7780+50del |