Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775535del , CM000672.2:g.94775535del | GRCh38 |
| NC_000010.10:g.96535292del , CM000672.1:g.96535292del | GRCh37 |
| NC_000010.9:g.96525282del | NCBI36 |
| NG_008384.2:g.17830del | |
| NG_008384.3:g.17855del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.477del MANE Select | ENSP00000360372.3:p.Lys160ArgfsTer18 | |
| ENST00000645461.1:n.1530del | ||
| ENST00000371321.7:c.477del | ENSP00000360372.3:p.Lys160ArgfsTer18 | |
| ENST00000464755.1:c.1240del | ENSP00000483243.1:n.1240del | |
| ENST00000480405.2:c.477del | ENSP00000483847.1:p.Lys160ArgfsTer10 | |
| NM_000769.2:c.477del | NP_000760.1:p.Lys160ArgfsTer18 | |
| NM_000769.4:c.477del MANE Select | NP_000760.1:p.Lys160ArgfsTer18 |