Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29489872_29489889del , CM000684.2:g.29489872_29489889del | GRCh38 |
| NC_000022.10:g.29885861_29885878del , CM000684.1:g.29885861_29885878del | GRCh37 |
| NC_000022.9:g.28215861_28215878del | NCBI36 |
| NG_008404.1:g.14681_14698del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021076.4:c.2232_2249del MANE Select | NP_066554.2:p.Lys745_Ala750del |
| ENST00000310624.7:c.2232_2249del MANE Select | ENSP00000311997.6:p.Lys745_Ala750del |
| NM_021076.3:c.2232_2249del | NP_066554.2:p.Lys745_Ala750del |
| ENST00000310624.6:c.2232_2249del | ENSP00000311997.6:p.Lys745_Ala750del |
| XM_011530200.1:c.1944_1961del | XP_011528502.1:p.Lys649_Ala654del |
| XM_011530200.2:c.1944_1961del | XP_011528502.1:p.Lys649_Ala654del |