Linked Data
gnomAD v4:
7-128843555-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128843556del , CM000669.2:g.128843556del | GRCh38 |
| NC_000007.13:g.128483610del , CM000669.1:g.128483610del | GRCh37 |
| NC_000007.12:g.128270846del | NCBI36 |
| NG_011807.1:g.18128del , LRG_870:g.18128del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.2790del MANE Select | ENSP00000327145.8:p.Lys931SerfsTer12 | |
| ENST00000325888.12:c.2790del | ENSP00000327145.8:p.Lys931SerfsTer12 | |
| ENST00000346177.6:c.2790del | ENSP00000344002.6:p.Lys931SerfsTer12 | |
| NM_001127487.1:c.2790del | NP_001120959.1:p.Lys931SerfsTer12 | |
| NM_001458.4:c.2790del , LRG_870t1:c.2790del | NP_001449.3:p.Lys931SerfsTer12 | |
| NM_001127487.2:c.2790del | NP_001120959.1:p.Lys931SerfsTer12 | |
| NM_001458.5:c.2790del MANE Select | NP_001449.3:p.Lys931SerfsTer12 |