Linked Data
dbSNP Id:
rs748821855
ExAC:
11:68528980 CG / C
gnomAD v2:
11-68528980-CG-C
gnomAD v4:
11-68761512-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68761514del , CM000673.2:g.68761514del | GRCh38 |
| NC_000011.9:g.68528982del , CM000673.1:g.68528982del | GRCh37 |
| NC_000011.8:g.68285558del | NCBI36 |
| NG_011801.1:g.85419del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265641.10:c.2028+22del MANE Select | ENSP00000265641.4:n.2028+22del | |
| ENST00000265641.9:c.2028+22del | ENSP00000265641.4:n.2028+22del | |
| ENST00000376618.6:c.2028+22del | ENSP00000365803.2:n.2028+22del | |
| ENST00000539743.5:c.2028+22del | ENSP00000446108.1:n.2028+22del | |
| ENST00000540367.5:c.2028+22del | ENSP00000439084.1:n.2028+22del | |
| NM_001031847.2:c.2028+22del | NP_001027017.1:n.2028+22del | |
| NM_001876.3:c.2028+22del | NP_001867.2:n.2028+22del | |
| XM_005273762.1:c.2124+22del | XP_005273819.1:n.2124+22del | |
| XM_005273763.1:c.2124+22del | XP_005273820.1:n.2124+22del | |
| XM_005273762.3:c.2124+22del | XP_005273819.1:n.2124+22del | |
| XM_017017220.1:c.2028+22del | XP_016872709.1:n.2028+22del | |
| NM_001876.4:c.2028+22del MANE Select | NP_001867.2:n.2028+22del | |
| NM_001031847.3:c.2028+22del | NP_001027017.1:n.2028+22del |