Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64759694_64759702del , CM000673.2:g.64759694_64759702del | GRCh38 |
| NC_000011.9:g.64527166_64527174del , CM000673.1:g.64527166_64527174del | GRCh37 |
| NC_000011.8:g.64283742_64283750del | NCBI36 |
| NG_013018.1:g.6014_6022del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.197_205del MANE Select | ENSP00000164139.3:p.Gly66_Ile69delinsVal | |
| ENST00000164139.3:c.197_205del | ENSP00000164139.3:p.Gly66_Ile69delinsVal | |
| ENST00000377432.7:c.197_205del | ENSP00000366650.3:p.Gly66_Ile69delinsVal | |
| NM_001164716.1:c.197_205del | NP_001158188.1:p.Gly66_Ile69delinsVal | |
| NM_005609.2:c.197_205del | NP_005600.1:p.Gly66_Ile69delinsVal | |
| NM_005609.3:c.197_205del | NP_005600.1:p.Gly66_Ile69delinsVal | |
| NM_005609.4:c.197_205del MANE Select | NP_005600.1:p.Gly66_Ile69delinsVal |