Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99397623_99397625del , CM000672.2:g.99397623_99397625del | GRCh38 |
| NC_000010.10:g.101157380_101157382del , CM000672.1:g.101157380_101157382del | GRCh37 |
| NC_000010.9:g.101147370_101147372del | NCBI36 |
| NG_032044.1:g.38150_38152del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002079.3:c.1165_1167del MANE Select | NP_002070.1:p.Asn389del |
| ENST00000370508.7:c.1165_1167del MANE Select | ENSP00000359539.5:p.Asn389del |
| NM_002079.2:c.1165_1167del | NP_002070.1:p.Asn389del |
| ENST00000370508.5:c.1165_1167del | ENSP00000359539.5:p.Asn389del |
| ENST00000489349.1:n.487_489del | |
| XR_945681.1:n.1104_1106del |