Linked Data
dbSNP Id:
rs1019598371
gnomAD v2:
17-38784964-CG-C
gnomAD v3:
17-40628712-CG-C
gnomAD v4:
17-40628712-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40628713del , CM000679.2:g.40628713del | GRCh38 |
| NC_000017.10:g.38784965del , CM000679.1:g.38784965del | GRCh37 |
| NC_000017.9:g.36038491del | NCBI36 |
| NG_032163.1:g.24139del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264640.9:c.*870del | ENSP00000466608.2:n.*870del | |
| ENST00000348513.12:c.*72del MANE Select | ENSP00000323967.6:n.*72del | |
| ENST00000377808.9:c.*295del | ENSP00000367039.4:n.*295del | |
| ENST00000400122.8:c.*295del | ENSP00000411607.2:n.*295del | |
| ENST00000469334.6:n.1906del | ||
| ENST00000578112.6:c.*1105del | ENSP00000464501.1:n.*1105del | |
| ENST00000580419.6:c.*287del | ENSP00000462475.2:n.*287del | |
| ENST00000642576.1:n.2451del | ||
| ENST00000643030.1:n.1931del | ||
| ENST00000643255.1:c.*3372del | ENSP00000493957.1:n.*3372del | |
| ENST00000643318.1:c.*72del | ENSP00000494771.1:n.*72del | |
| ENST00000643378.1:n.1863del | ||
| ENST00000643683.1:c.*72del | ENSP00000496094.1:n.*72del | |
| ENST00000643893.1:n.1601del | ||
| ENST00000644443.1:n.3196del | ||
| ENST00000644523.1:n.1354del | ||
| ENST00000644527.1:c.*72del | ENSP00000493974.1:n.*72del | |
| ENST00000644701.1:c.*295del | ENSP00000496097.1:n.*295del | |
| ENST00000644909.1:c.*577del | ENSP00000493649.1:n.*577del | |
| ENST00000645152.1:n.1971del | ||
| ENST00000645227.1:c.*996del | ENSP00000495021.1:n.*996del | |
| ENST00000646242.1:n.7220del | ||
| ENST00000646283.1:c.*72del | ENSP00000494537.1:n.*72del | |
| ENST00000646401.1:n.2674del | ||
| ENST00000646856.1:c.*1184del | ENSP00000494505.1:n.*1184del | |
| ENST00000647294.1:c.*1238del | ENSP00000494815.1:n.*1238del | |
| ENST00000647508.1:c.*72del | ENSP00000496445.1:n.*72del | |
| ENST00000647515.1:c.*839del | ENSP00000495857.1:n.*839del | |
| ENST00000348513.10:c.*72del | ENSP00000323967.6:n.*72del | |
| ENST00000431889.6:c.*72del | ENSP00000445370.1:n.*72del | |
| ENST00000469334.5:n.1895del | ||
| ENST00000578112.5:c.*1105del | ENSP00000464501.1:n.*1105del | |
| NM_003079.4:c.*72del | NP_003070.3:n.*72del | |
| NM_003079.5:c.*72del MANE Select | NP_003070.3:n.*72del |