Linked Data
dbSNP Id:
rs753293625
ExAC:
7:128498436 TGAG / T
gnomAD v2:
7-128498436-TGAG-T
gnomAD v4:
7-128858382-TGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128858387_128858389del , CM000669.2:g.128858387_128858389del | GRCh38 |
| NC_000007.13:g.128498441_128498443del , CM000669.1:g.128498441_128498443del | GRCh37 |
| NC_000007.12:g.128285677_128285679del | NCBI36 |
| NG_011807.1:g.32959_32961del , LRG_870:g.32959_32961del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325888.13:c.8042_8044del (FLNC) MANE Select | ENSP00000327145.8:p.Glu2681del | |
| ENST00000325888.12:c.8042_8044del (FLNC) | ENSP00000327145.8:p.Glu2681del | |
| ENST00000346177.6:c.7943_7945del (FLNC) | ENSP00000344002.6:p.Glu2648del | |
| NM_001127487.1:c.7943_7945del (FLNC) | NP_001120959.1:p.Glu2648del | |
| NM_001458.4:c.8042_8044del , LRG_870t1:c.8042_8044del (FLNC) | NP_001449.3:p.Glu2681del | |
| NR_149055.1:n.102+4140_102+4142del (FLNC-AS1) | ||
| NM_001127487.2:c.7943_7945del (FLNC) | NP_001120959.1:p.Glu2648del | |
| NM_001458.5:c.8042_8044del (FLNC) MANE Select | NP_001449.3:p.Glu2681del |