Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400549_18400552delinsAAAG , CM000670.2:g.18400549_18400552delinsAAAG | GRCh38 |
| NC_000008.10:g.18258059_18258062delinsAAAG , CM000670.1:g.18258059_18258062delinsAAAG | GRCh37 |
| NC_000008.9:g.18302339_18302342delinsAAAG | NCBI36 |
| NG_012246.1:g.14305_14308delinsAAAG |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000015.3:c.546_549delinsAAAG MANE Select | NP_000006.2:p.Pro182= |
| ENST00000286479.4:c.546_549delinsAAAG MANE Select | ENSP00000286479.3:p.Pro182= |
| NM_000015.2:c.546_549delinsAAAG | NP_000006.2:p.Pro182= |
| ENST00000286479.3:c.546_549delinsAAAG | ENSP00000286479.3:p.Pro182= |
| ENST00000520116.1:c.156_159delinsAAAG | ENSP00000428416.1:p.Pro52= |
| XM_011544358.1:c.546_549delinsAAAG | XP_011542660.1:p.Pro182= |
| XM_017012938.1:c.546_549delinsAAAG | XP_016868427.1:p.Pro182= |