Linked Data
dbSNP Id:
rs769595220
ExAC:
18:21136258 CG / C
gnomAD v2:
18-21136258-CG-C
gnomAD v3:
18-23556294-CG-C
gnomAD v4:
18-23556294-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23556295del , CM000680.2:g.23556295del | GRCh38 |
| NC_000018.9:g.21136259del , CM000680.1:g.21136259del | GRCh37 |
| NC_000018.8:g.19390257del | NCBI36 |
| NG_012795.1:g.35323del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.1274del MANE Select | ENSP00000269228.4:p.Ser425TrpfsTer24 | |
| ENST00000269228.9:c.1274del | ENSP00000269228.4:p.Ser425TrpfsTer24 | |
| ENST00000540608.5:n.1188del | ||
| ENST00000591051.1:c.556del | ||
| NM_000271.4:c.1274del | NP_000262.2:p.Ser425TrpfsTer24 | |
| XM_005258277.1:c.1325del | XP_005258334.1:p.Ser442TrpfsTer24 | |
| XM_005258278.3:c.1325del | XP_005258335.1:p.Ser442TrpfsTer24 | |
| XM_005258279.1:c.1274del | XP_005258336.1:p.Ser425TrpfsTer24 | |
| XM_006722479.2:c.1325del | XP_006722542.1:p.Ser442TrpfsTer24 | |
| XM_011526015.1:c.860del | XP_011524317.1:p.Ser287TrpfsTer24 | |
| XM_005258278.5:c.1325del | XP_005258335.1:p.Ser442TrpfsTer24 | |
| XM_005258279.2:c.1274del | XP_005258336.1:p.Ser425TrpfsTer24 | |
| XM_006722479.3:c.1325del | XP_006722542.1:p.Ser442TrpfsTer24 | |
| XM_017025784.1:c.1325del | XP_016881273.1:p.Ser442TrpfsTer24 | |
| XM_017025785.1:c.1325del | XP_016881274.1:p.Ser442TrpfsTer24 | |
| XM_017025786.1:c.1274del | XP_016881275.1:p.Ser425TrpfsTer24 | |
| XM_017025787.1:c.1274del | XP_016881276.1:p.Ser425TrpfsTer24 | |
| NM_000271.5:c.1274del MANE Select | NP_000262.2:p.Ser425TrpfsTer24 |