Linked Data
dbSNP Id:
rs1197942361
gnomAD v2:
17-38784834-CAAAGA-C
gnomAD v3:
17-40628582-CAAAGA-C
gnomAD v4:
17-40628582-CAAAGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40628588_40628592del , CM000679.2:g.40628588_40628592del | GRCh38 |
| NC_000017.10:g.38784840_38784844del , CM000679.1:g.38784840_38784844del | GRCh37 |
| NC_000017.9:g.36038366_36038370del | NCBI36 |
| NG_032163.1:g.24265_24269del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264640.9:c.*996_*1000del | ENSP00000466608.2:n.*996_*1000del | |
| ENST00000348513.12:c.*198_*202del MANE Select | ENSP00000323967.6:n.*198_*202del | |
| ENST00000377808.9:c.*421_*425del | ENSP00000367039.4:n.*421_*425del | |
| ENST00000400122.8:c.*421_*425del | ENSP00000411607.2:n.*421_*425del | |
| ENST00000469334.6:n.2032_2036del | ||
| ENST00000578112.6:c.*1231_*1235del | ENSP00000464501.1:n.*1231_*1235del | |
| ENST00000580419.6:c.*413_*417del | ENSP00000462475.2:n.*413_*417del | |
| ENST00000642576.1:n.2577_2581del | ||
| ENST00000643030.1:n.2057_2061del | ||
| ENST00000643255.1:c.*3498_*3502del | ENSP00000493957.1:n.*3498_*3502del | |
| ENST00000643318.1:c.*198_*202del | ENSP00000494771.1:n.*198_*202del | |
| ENST00000643378.1:n.1989_1993del | ||
| ENST00000643683.1:c.*198_*202del | ENSP00000496094.1:n.*198_*202del | |
| ENST00000643893.1:n.1727_1731del | ||
| ENST00000644443.1:n.3322_3326del | ||
| ENST00000644523.1:n.1480_1484del | ||
| ENST00000644527.1:c.*198_*202del | ENSP00000493974.1:n.*198_*202del | |
| ENST00000644701.1:c.*421_*425del | ENSP00000496097.1:n.*421_*425del | |
| ENST00000644909.1:c.*703_*707del | ENSP00000493649.1:n.*703_*707del | |
| ENST00000645152.1:n.2097_2101del | ||
| ENST00000645227.1:c.*1122_*1126del | ENSP00000495021.1:n.*1122_*1126del | |
| ENST00000646242.1:n.7346_7350del | ||
| ENST00000646283.1:c.*198_*202del | ENSP00000494537.1:n.*198_*202del | |
| ENST00000646401.1:n.2800_2804del | ||
| ENST00000646856.1:c.*1310_*1314del | ENSP00000494505.1:n.*1310_*1314del | |
| ENST00000647294.1:c.*1364_*1368del | ENSP00000494815.1:n.*1364_*1368del | |
| ENST00000647508.1:c.*198_*202del | ENSP00000496445.1:n.*198_*202del | |
| ENST00000647515.1:c.*965_*969del | ENSP00000495857.1:n.*965_*969del | |
| ENST00000348513.10:c.*198_*202del | ENSP00000323967.6:n.*198_*202del | |
| ENST00000431889.6:c.*198_*202del | ENSP00000445370.1:n.*198_*202del | |
| ENST00000469334.5:n.2021_2025del | ||
| ENST00000578112.5:c.*1231_*1235del | ENSP00000464501.1:n.*1231_*1235del | |
| NM_003079.4:c.*198_*202del | NP_003070.3:n.*198_*202del | |
| NM_003079.5:c.*198_*202del MANE Select | NP_003070.3:n.*198_*202del |