Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46011407_46011419delinsGCCTGCAATTCAC , CM000682.2:g.46011407_46011419delinsGCCTGCAATTCAC | GRCh38 |
| NC_000020.10:g.44640046_44640058delinsGCCTGCAATTCAC , CM000682.1:g.44640046_44640058delinsGCCTGCAATTCAC | GRCh37 |
| NC_000020.9:g.44073453_44073465delinsGCCTGCAATTCAC | NCBI36 |
| NG_011468.1:g.7500_7512delinsGCCTGCAATTCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.823+91_823+103delinsGCCTGCAATTCAC MANE Select | ENSP00000361405.3:n.823+91_823+103delinsGCCTGCAATTCAC | |
| NM_004994.2:c.823+91_823+103delinsGCCTGCAATTCAC | NP_004985.2:n.823+91_823+103delinsGCCTGCAATTCAC | |
| NM_004994.3:c.823+91_823+103delinsGCCTGCAATTCAC MANE Select | NP_004985.2:n.823+91_823+103delinsGCCTGCAATTCAC |