Linked Data
dbSNP Id:
rs755854524
ExAC:
15:50534743 AAGG / A
gnomAD v2:
15-50534743-AAGG-A
gnomAD v4:
15-50242546-AAGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50242551_50242553del , CM000677.2:g.50242551_50242553del | GRCh38 |
| NC_000015.9:g.50534748_50534750del , CM000677.1:g.50534748_50534750del | GRCh37 |
| NC_000015.8:g.48322040_48322042del | NCBI36 |
| NG_027487.1:g.28417_28419del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267845.8:c.1700_1702del MANE Select | ENSP00000267845.3:p.Ser567del | |
| ENST00000267845.7:c.1700_1702del | ENSP00000267845.3:p.Ser567del | |
| ENST00000543581.5:c.1601_1603del | ENSP00000440252.1:p.Ser534del | |
| ENST00000559816.1:n.1444_1446del | ||
| NM_001306146.1:c.1601_1603del | NP_001293075.1:p.Ser534del | |
| NM_002112.3:c.1700_1702del | NP_002103.2:p.Ser567del | |
| XM_011521479.1:c.1463_1465del | XP_011519781.1:p.Ser488del | |
| XM_011521480.1:c.1268_1270del | XP_011519782.1:p.Ser423del | |
| XM_017022094.1:c.1805_1807del | XP_016877583.1:p.Ser602del | |
| XM_017022095.1:c.1706_1708del | XP_016877584.1:p.Ser569del | |
| XM_017022096.1:c.1577_1579del | XP_016877585.1:p.Ser526del | |
| XM_017022097.1:c.1568_1570del | XP_016877586.1:p.Ser523del | |
| XM_017022098.1:c.1373_1375del | XP_016877587.1:p.Ser458del | |
| NM_002112.4:c.1700_1702del MANE Select | NP_002103.2:p.Ser567del | |
| NM_001306146.2:c.1601_1603del | NP_001293075.1:p.Ser534del |