Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451577_52451578delinsTG , CM000674.2:g.52451577_52451578delinsTG | GRCh38 |
| NC_000012.11:g.52845361_52845362delinsTG , CM000674.1:g.52845361_52845362delinsTG | GRCh37 |
| NC_000012.10:g.51131628_51131629delinsTG | NCBI36 |
| NG_008299.1:g.5549_5550delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.501_502delinsCA MANE Select | ENSP00000252252.3:p.Ile167= | |
| ENST00000252252.3:c.501_502delinsCA | ENSP00000252252.3:p.Ile167= | |
| NM_005555.3:c.501_502delinsCA | NP_005546.2:p.Ile167= | |
| NM_005555.4:c.501_502delinsCA MANE Select | NP_005546.2:p.Ile167= |