Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19960933_19960936del , CM000670.2:g.19960933_19960936del | GRCh38 |
| NC_000008.10:g.19818444_19818447del , CM000670.1:g.19818444_19818447del | GRCh37 |
| NC_000008.9:g.19862724_19862727del | NCBI36 |
| NG_008855.1:g.26863_26866del | |
| NG_008855.2:g.64217_64220del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1172_1175del MANE Select | ENSP00000497642.1:p.Phe391Ter | |
| ENST00000650478.1:c.112_115del | ENSP00000497560.1:p.Ser38AsnfsTer20 | |
| ENST00000311322.8:c.1172_1175del | ENSP00000309757.6:p.Phe391Ter | |
| NM_000237.2:c.1172_1175del | NP_000228.1:p.Phe391Ter | |
| NM_000237.3:c.1172_1175del MANE Select | NP_000228.1:p.Phe391Ter |