Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966074_154966086del , CM000685.2:g.154966074_154966086del | GRCh38 |
| NC_000023.10:g.154194349_154194361del , CM000685.1:g.154194349_154194361del | GRCh37 |
| NC_000023.9:g.153847543_153847555del | NCBI36 |
| NG_011403.1:g.61638_61650del | |
| NG_011403.2:g.61638_61650del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.1327_1339del MANE Select | ENSP00000353393.4:p.Lys443LeufsTer? | |
| ENST00000647125.1:c.*1203_*1215del | ENSP00000496062.1:n.*1203_*1215del | |
| ENST00000360256.8:c.1327_1339del | ENSP00000353393.4:p.Lys443LeufsTer? | |
| ENST00000483822.2:n.147_159del | ||
| NM_000132.3:c.1327_1339del | NP_000123.1:p.Lys443LeufsTer? | |
| XM_011531126.1:c.1222_1234del | XP_011529428.1:p.Lys408LeufsTer? | |
| NM_000132.4:c.1327_1339del MANE Select | NP_000123.1:p.Lys443LeufsTer? |