Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44829447_44829448del , CM000663.2:g.44829447_44829448del | GRCh38 |
| NC_000001.10:g.45295119_45295120del , CM000663.1:g.45295119_45295120del | GRCh37 |
| NC_000001.9:g.45067706_45067707del | NCBI36 |
| NG_013369.1:g.18500_18501del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003738.5:c.1172_1173del MANE Select | NP_003729.3:p.Ser391Ter |
| ENST00000372192.4:c.1172_1173del MANE Select | ENSP00000361266.3:p.Ser391Ter |
| NM_001166292.1:c.1172_1173del | NP_001159764.1:p.Ser391Ter |
| NM_001166292.2:c.1172_1173del | NP_001159764.1:p.Ser391Ter |
| NM_003738.4:c.1172_1173del | NP_003729.3:p.Ser391Ter |
| ENST00000372192.3:c.1172_1173del | ENSP00000361266.3:p.Ser391Ter |
| ENST00000447098.6:c.1172_1173del | ENSP00000389703.2:p.Ser391Ter |