Linked Data
gnomAD v4:
17-34255978-ACAGCTCCTCCTTCTCTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34255979_34255995del , CM000679.2:g.34255979_34255995del | GRCh38 |
| NC_000017.10:g.32582998_32583014del , CM000679.1:g.32582998_32583014del | GRCh37 |
| NC_000017.9:g.29607111_29607127del | NCBI36 |
| NG_012123.1:g.5703_5719del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.77-243_77-227del | ENSP00000462156.1:n.77-243_77-227del | |
| ENST00000624362.2:n.695_711del | ||
| ENST00000225831.4:c.77-243_77-227del MANE Select | ENSP00000225831.4:n.77-243_77-227del | |
| ENST00000580907.5:c.77-243_77-227del | ENSP00000462156.1:n.77-243_77-227del | |
| ENST00000624362.1:n.762_778del | ||
| NM_002982.3:c.77-243_77-227del | NP_002973.1:n.77-243_77-227del | |
| NM_002982.4:c.77-243_77-227del MANE Select | NP_002973.1:n.77-243_77-227del |