Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154969383_154969391del , CM000685.2:g.154969383_154969391del | GRCh38 |
| NC_000023.10:g.154197658_154197666del , CM000685.1:g.154197658_154197666del | GRCh37 |
| NC_000023.9:g.153850852_153850860del | NCBI36 |
| NG_011403.1:g.58334_58342del | |
| NG_011403.2:g.58334_58342del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.950_958del MANE Select | ENSP00000353393.4:p.Thr317_Leu319del | |
| ENST00000647125.1:c.*826_*834del | ENSP00000496062.1:n.*826_*834del | |
| ENST00000360256.8:c.950_958del | ENSP00000353393.4:p.Thr317_Leu319del | |
| NM_000132.3:c.950_958del | NP_000123.1:p.Thr317_Leu319del | |
| XM_011531126.1:c.845_853del | XP_011529428.1:p.Thr282_Leu284del | |
| NM_000132.4:c.950_958del MANE Select | NP_000123.1:p.Thr317_Leu319del |