Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129213072_129213074del , CM000669.2:g.129213072_129213074del | GRCh38 |
| NC_000007.13:g.128852913_128852915del , CM000669.1:g.128852913_128852915del | GRCh37 |
| NC_000007.12:g.128640149_128640151del | NCBI36 |
| NG_023340.2:g.29201_29203del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249373.8:c.*621_*623del MANE Select | ENSP00000249373.3:n.*621_*623del | |
| ENST00000655644.1:c.*2740_*2742del | ENSP00000499377.1:n.*2740_*2742del | |
| ENST00000249373.7:c.*621_*623del | ENSP00000249373.3:n.*621_*623del | |
| XM_011516522.1:c.*621_*623del | XP_011514824.1:n.*621_*623del | |
| XM_024446891.1:c.*621_*623del | XP_024302659.1:n.*621_*623del | |
| NM_005631.5:c.*621_*623del MANE Select | NP_005622.1:n.*621_*623del |