Linked Data
dbSNP Id:
rs1178221207
gnomAD v2:
16-88892789-CA-C
gnomAD v3:
16-88826381-CA-C
gnomAD v4:
16-88826381-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88826382del , CM000678.2:g.88826382del | GRCh38 |
| NC_000016.9:g.88892790del , CM000678.1:g.88892790del | GRCh37 |
| NC_000016.8:g.87420291del | NCBI36 |
| NG_008667.1:g.35585del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.1139+320del MANE Select | ENSP00000268695.5:n.1139+320del | |
| ENST00000268695.9:c.1139+320del | ENSP00000268695.5:n.1139+320del | |
| ENST00000562593.5:n.4548+320del | ||
| ENST00000564263.1:n.415+320del | ||
| ENST00000567525.5:c.820+320del | ENSP00000454484.1:n.820+320del | |
| ENST00000568613.5:c.1258+320del | ENSP00000457921.1:n.1258+320del | |
| NM_000512.4:c.1139+320del | NP_000503.1:n.1139+320del | |
| XM_005256301.2:c.1139+320del | XP_005256358.1:n.1139+320del | |
| XM_005256302.1:c.1157+320del | XP_005256359.1:n.1157+320del | |
| XM_011522982.1:c.1157+320del | XP_011521284.1:n.1157+320del | |
| XM_011522984.1:c.1157+320del | XP_011521286.1:n.1157+320del | |
| NM_001323543.1:c.584+320del | NP_001310472.1:n.584+320del | |
| NM_001323544.1:c.1157+320del | NP_001310473.1:n.1157+320del | |
| XM_005256301.3:c.1139+320del | XP_005256358.1:n.1139+320del | |
| XM_011522982.2:c.1157+320del | XP_011521284.1:n.1157+320del | |
| XM_017023111.2:c.1157+320del | XP_016878600.1:n.1157+320del | |
| XM_017023112.2:c.1157+320del | XP_016878601.1:n.1157+320del | |
| XM_017023113.1:c.584+320del | XP_016878602.1:n.584+320del | |
| NM_000512.5:c.1139+320del MANE Select | NP_000503.1:n.1139+320del | |
| NM_001323543.2:c.584+320del | NP_001310472.1:n.584+320del | |
| NM_001323544.2:c.1157+320del | NP_001310473.1:n.1157+320del |