Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34255996_34255999del , CM000679.2:g.34255996_34255999del | GRCh38 |
| NC_000017.10:g.32583015_32583018del , CM000679.1:g.32583015_32583018del | GRCh37 |
| NC_000017.9:g.29607128_29607131del | NCBI36 |
| NG_012123.1:g.5720_5723del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.77-226_77-223del | ENSP00000462156.1:n.77-226_77-223del | |
| ENST00000624362.2:n.712_715del | ||
| ENST00000225831.4:c.77-226_77-223del MANE Select | ENSP00000225831.4:n.77-226_77-223del | |
| ENST00000580907.5:c.77-226_77-223del | ENSP00000462156.1:n.77-226_77-223del | |
| ENST00000624362.1:n.779_782del | ||
| NM_002982.3:c.77-226_77-223del | NP_002973.1:n.77-226_77-223del | |
| NM_002982.4:c.77-226_77-223del MANE Select | NP_002973.1:n.77-226_77-223del |