Linked Data
dbSNP Id:
rs1449986994
gnomAD v2:
22-30070780-AC-A
gnomAD v3:
22-29674791-AC-A
gnomAD v4:
22-29674791-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29674793del , CM000684.2:g.29674793del | GRCh38 |
| NC_000022.10:g.30070782del , CM000684.1:g.30070782del | GRCh37 |
| NC_000022.9:g.28400782del | NCBI36 |
| NG_009057.1:g.76238del , LRG_511:g.76238del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361166.10:c.1206-43del | ENSP00000354529.6:n.1206-43del | |
| ENST00000673312.2:c.*835-43del | ENSP00000500186.2:n.*835-43del | |
| ENST00000338641.10:c.1341-43del MANE Select | ENSP00000344666.5:n.1341-43del | |
| ENST00000361166.9:c.759-43del | ENSP00000354529.5:n.759-43del | |
| ENST00000672461.1:c.1341-43del | ENSP00000500919.1:n.1341-43del | |
| ENST00000672805.1:c.*1223-43del | ENSP00000500295.1:n.*1223-43del | |
| ENST00000672896.1:c.1341-43del | ENSP00000500117.1:n.1341-43del | |
| ENST00000673312.1:c.1360-43del | ENSP00000500186.1:n.1360-43del | |
| ENST00000334961.11:c.1092-43del | ENSP00000335652.7:n.1092-43del | |
| ENST00000338641.8:c.1341-43del | ENSP00000344666.4:n.1341-43del | |
| ENST00000353887.8:c.1092-43del | ENSP00000340626.4:n.1092-43del | |
| ENST00000361166.8:c.1341-43del | ENSP00000354529.4:n.1341-43del | |
| ENST00000361452.8:c.1218-43del | ENSP00000354897.4:n.1218-43del | |
| ENST00000361676.8:c.1215-43del | ENSP00000355183.4:n.1215-43del | |
| ENST00000397789.3:c.1341-43del | ENSP00000380891.3:n.1341-43del | |
| ENST00000403435.5:c.1254-43del | ENSP00000384029.1:n.1254-43del | |
| ENST00000403999.7:c.1341-43del | ENSP00000384797.3:n.1341-43del | |
| ENST00000413209.6:c.448-19959del | ENSP00000409921.2:n.448-19959del | |
| ENST00000432151.5:c.523-43del | ENSP00000395885.1:n.523-43del | |
| NM_000268.3:c.1341-43del , LRG_511t1:c.1341-43del | NP_000259.1:n.1341-43del | |
| NM_016418.5:c.1341-43del , LRG_511t2:c.1341-43del | NP_057502.2:n.1341-43del | |
| NM_181825.2:c.1341-43del | NP_861546.1:n.1341-43del | |
| NM_181828.2:c.1215-43del | NP_861966.1:n.1215-43del | |
| NM_181829.2:c.1218-43del | NP_861967.1:n.1218-43del | |
| NM_181830.2:c.1092-43del | NP_861968.1:n.1092-43del | |
| NM_181831.2:c.1092-43del | NP_861969.1:n.1092-43del | |
| NM_181832.2:c.1341-43del | NP_861970.1:n.1341-43del | |
| NM_181833.2:c.448-19959del | NP_861971.1:n.448-19959del | |
| NR_156186.1:n.1900-43del | ||
| XM_017028809.2:c.1227-43del | XP_016884298.1:n.1227-43del | |
| XM_017028810.1:c.1227-43del | XP_016884299.1:n.1227-43del | |
| NM_000268.4:c.1341-43del MANE Select | NP_000259.1:n.1341-43del | |
| NM_181825.3:c.1341-43del | NP_861546.1:n.1341-43del | |
| NM_181828.3:c.1215-43del | NP_861966.1:n.1215-43del | |
| NM_181829.3:c.1218-43del | NP_861967.1:n.1218-43del | |
| NM_181830.3:c.1092-43del | NP_861968.1:n.1092-43del | |
| NM_181831.3:c.1092-43del | NP_861969.1:n.1092-43del | |
| NM_181832.3:c.1341-43del | NP_861970.1:n.1341-43del | |
| NR_156186.2:n.1823-43del | ||
| NM_181833.3:c.448-19959del | NP_861971.1:n.448-19959del |