Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48505097del , CM000677.2:g.48505097del | GRCh38 |
| NC_000015.9:g.48797294del , CM000677.1:g.48797294del | GRCh37 |
| NC_000015.8:g.46584586del | NCBI36 |
| NG_008805.2:g.145693del , LRG_778:g.145693del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000138.5:c.1889del MANE Select | NP_000129.3:p.Asn630ThrfsTer? |
| ENST00000316623.10:c.1889del MANE Select | ENSP00000325527.5:p.Asn630ThrfsTer? |
| NM_000138.4:c.1889del , LRG_778t1:c.1889del | NP_000129.3:p.Asn630ThrfsTer? |
| ENST00000316623.9:c.1889del | ENSP00000325527.5:p.Asn630ThrfsTer? |
| ENST00000537463.6:c.637-30446del | ENSP00000440294.2:n.637-30446del |
| ENST00000559133.6:c.1889del | ENSP00000453958.2:p.Asn630ThrfsTer? |
| ENST00000674301.2:c.1889del | ENSP00000501333.2:p.Asn630ThrfsTer? |
| ENST00000684448.1:n.563del |