Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154902146del , CM000685.2:g.154902146del | GRCh38 |
| NC_000023.10:g.154130421del , CM000685.1:g.154130421del | GRCh37 |
| NC_000023.9:g.153783615del | NCBI36 |
| NG_011403.1:g.125578del | |
| NG_011403.2:g.125578del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6020del MANE Select | ENSP00000353393.4:p.Met2007SerfsTer23 | |
| ENST00000360256.8:c.6020del | ENSP00000353393.4:p.Met2007SerfsTer23 | |
| NM_000132.3:c.6020del | NP_000123.1:p.Met2007SerfsTer23 | |
| XM_011531126.1:c.5915del | XP_011529428.1:p.Met1972SerfsTer23 | |
| NM_000132.4:c.6020del MANE Select | NP_000123.1:p.Met2007SerfsTer23 |