Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966668_154966677del , CM000685.2:g.154966668_154966677del | GRCh38 |
| NC_000023.10:g.154194943_154194952del , CM000685.1:g.154194943_154194952del | GRCh37 |
| NC_000023.9:g.153848137_153848146del | NCBI36 |
| NG_011403.1:g.61048_61057del | |
| NG_011403.2:g.61048_61057del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.1021_1030del MANE Select | ENSP00000353393.4:p.Ala341LysfsTer2 | |
| ENST00000647125.1:c.*897_*906del | ENSP00000496062.1:n.*897_*906del | |
| ENST00000360256.8:c.1021_1030del | ENSP00000353393.4:p.Ala341LysfsTer2 | |
| NM_000132.3:c.1021_1030del | NP_000123.1:p.Ala341LysfsTer2 | |
| XM_011531126.1:c.916_925del | XP_011529428.1:p.Ala306LysfsTer2 | |
| NM_000132.4:c.1021_1030del MANE Select | NP_000123.1:p.Ala341LysfsTer2 |