Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129213084_129213091del , CM000669.2:g.129213084_129213091del | GRCh38 |
| NC_000007.13:g.128852925_128852932del , CM000669.1:g.128852925_128852932del | GRCh37 |
| NC_000007.12:g.128640161_128640168del | NCBI36 |
| NG_023340.1:g.29213_29220del | |
| NG_023340.2:g.29213_29220del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249373.8:c.*633_*640del MANE Select | ENSP00000249373.3:n.*633_*640del | |
| ENST00000655644.1:c.*2752_*2759del | ENSP00000499377.1:n.*2752_*2759del | |
| ENST00000249373.7:c.*633_*640del | ENSP00000249373.3:n.*633_*640del | |
| NM_005631.4:c.*633_*640del | NP_005622.1:n.*633_*640del | |
| XM_011516522.1:c.*633_*640del | XP_011514824.1:n.*633_*640del | |
| XM_024446891.1:c.*633_*640del | XP_024302659.1:n.*633_*640del | |
| NM_005631.5:c.*633_*640del MANE Select | NP_005622.1:n.*633_*640del |