Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400513_18400517delinsTACAA , CM000670.2:g.18400513_18400517delinsTACAA | GRCh38 |
| NC_000008.10:g.18258023_18258027delinsTACAA , CM000670.1:g.18258023_18258027delinsTACAA | GRCh37 |
| NC_000008.9:g.18302303_18302307delinsTACAA | NCBI36 |
| NG_012246.1:g.14269_14273delinsTACAA |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000015.3:c.510_514delinsTACAA MANE Select | NP_000006.2:p.Ile170= |
| ENST00000286479.4:c.510_514delinsTACAA MANE Select | ENSP00000286479.3:p.Ile170= |
| NM_000015.2:c.510_514delinsTACAA | NP_000006.2:p.Ile170= |
| ENST00000286479.3:c.510_514delinsTACAA | ENSP00000286479.3:p.Ile170= |
| ENST00000520116.1:c.120_124delinsTACAA | ENSP00000428416.1:p.Ile40= |
| XM_011544358.1:c.510_514delinsTACAA | XP_011542660.1:p.Ile170= |
| XM_017012938.1:c.510_514delinsTACAA | XP_016868427.1:p.Ile170= |