Linked Data
dbSNP Id:
rs752343455
ExAC:
15:50534704 GTCT / G
gnomAD v2:
15-50534704-GTCT-G
gnomAD v3:
15-50242507-GTCT-G
gnomAD v4:
15-50242507-GTCT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50242515_50242517del , CM000677.2:g.50242515_50242517del | GRCh38 |
| NC_000015.9:g.50534712_50534714del , CM000677.1:g.50534712_50534714del | GRCh37 |
| NC_000015.8:g.48322004_48322006del | NCBI36 |
| NG_027487.1:g.28456_28458del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267845.8:c.1739_1741del MANE Select | ENSP00000267845.3:p.Lys580del | |
| ENST00000267845.7:c.1739_1741del | ENSP00000267845.3:p.Lys580del | |
| ENST00000543581.5:c.1640_1642del | ENSP00000440252.1:p.Lys547del | |
| ENST00000559816.1:n.1483_1485del | ||
| NM_001306146.1:c.1640_1642del | NP_001293075.1:p.Lys547del | |
| NM_002112.3:c.1739_1741del | NP_002103.2:p.Lys580del | |
| XM_011521479.1:c.1502_1504del | XP_011519781.1:p.Lys501del | |
| XM_011521480.1:c.1307_1309del | XP_011519782.1:p.Lys436del | |
| XM_017022094.1:c.1844_1846del | XP_016877583.1:p.Lys615del | |
| XM_017022095.1:c.1745_1747del | XP_016877584.1:p.Lys582del | |
| XM_017022096.1:c.1616_1618del | XP_016877585.1:p.Lys539del | |
| XM_017022097.1:c.1607_1609del | XP_016877586.1:p.Lys536del | |
| XM_017022098.1:c.1412_1414del | XP_016877587.1:p.Lys471del | |
| NM_002112.4:c.1739_1741del MANE Select | NP_002103.2:p.Lys580del | |
| NM_001306146.2:c.1640_1642del | NP_001293075.1:p.Lys547del |