Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18786034_18786039del , CM000681.2:g.18786034_18786039del | GRCh38 |
| NC_000019.9:g.18896844_18896849del , CM000681.1:g.18896844_18896849del | GRCh37 |
| NC_000019.8:g.18757844_18757849del | NCBI36 |
| NG_007070.1:g.10267_10272del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1416_1421del MANE Select | ENSP00000222271.2:p.Asp473_Asn474del | |
| ENST00000222271.6:c.1416_1421del | ENSP00000222271.2:p.Asp473_Asn474del | |
| ENST00000425807.1:c.1257_1262del | ENSP00000403792.1:p.Asp420_Asn421del | |
| ENST00000542601.6:c.1317_1322del | ENSP00000439156.2:p.Asp440_Asn441del | |
| NM_000095.2:c.1416_1421del | NP_000086.2:p.Asp473_Asn474del | |
| NM_000095.3:c.1416_1421del MANE Select | NP_000086.2:p.Asp473_Asn474del |