Linked Data
gnomAD v3:
20-46724875-C-CGGATGGATGGATGGATGGATGGATGGAT
gnomAD v4:
20-46724875-C-CGGATGGATGGATGGATGGATGGATGGAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46724878_46724905dup , CM000682.2:g.46724878_46724905dup | GRCh38 |
| NC_000020.10:g.45353517_45353544dup , CM000682.1:g.45353517_45353544dup | GRCh37 |
| NC_000020.9:g.44786924_44786951dup | NCBI36 |
| NG_016284.1:g.20239_20266dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.5-163_5-136dup MANE Select | ENSP00000352216.2:n.5-163_5-136dup | |
| ENST00000359271.3:c.5-163_5-136dup | ENSP00000352216.2:n.5-163_5-136dup | |
| ENST00000611837.1:n.157-163_157-136dup | ||
| NM_030777.3:c.5-163_5-136dup | NP_110404.1:n.5-163_5-136dup | |
| XM_011529060.1:c.68-163_68-136dup | XP_011527362.1:n.68-163_68-136dup | |
| XM_011529061.1:c.14-163_14-136dup | XP_011527363.1:n.14-163_14-136dup | |
| XM_011529062.1:c.68-163_68-136dup | XP_011527364.1:n.68-163_68-136dup | |
| XM_011529063.1:c.68-163_68-136dup | XP_011527365.1:n.68-163_68-136dup | |
| XM_011529064.1:c.68-163_68-136dup | XP_011527366.1:n.68-163_68-136dup | |
| XM_011529065.1:c.68-163_68-136dup | XP_011527367.1:n.68-163_68-136dup | |
| XR_936641.1:n.204-163_204-136dup | ||
| XM_011529060.2:c.68-163_68-136dup | XP_011527362.1:n.68-163_68-136dup | |
| XM_011529061.2:c.14-163_14-136dup | XP_011527363.1:n.14-163_14-136dup | |
| XM_011529062.2:c.68-163_68-136dup | XP_011527364.1:n.68-163_68-136dup | |
| XM_011529063.2:c.68-163_68-136dup | XP_011527365.1:n.68-163_68-136dup | |
| XM_011529064.2:c.68-163_68-136dup | XP_011527366.1:n.68-163_68-136dup | |
| XM_011529065.2:c.68-163_68-136dup | XP_011527367.1:n.68-163_68-136dup | |
| XM_017028087.2:c.5-163_5-136dup | XP_016883576.1:n.5-163_5-136dup | |
| XR_936641.2:n.191-163_191-136dup | ||
| NM_030777.4:c.5-163_5-136dup MANE Select | NP_110404.1:n.5-163_5-136dup |