Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451608_52451609delinsCT , CM000674.2:g.52451608_52451609delinsCT | GRCh38 |
| NC_000012.11:g.52845392_52845393delinsCT , CM000674.1:g.52845392_52845393delinsCT | GRCh37 |
| NC_000012.10:g.51131659_51131660delinsCT | NCBI36 |
| NG_008299.1:g.5518_5519delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.470_471delinsAG MANE Select | ENSP00000252252.3:p.Gln157= | |
| ENST00000252252.3:c.470_471delinsAG | ENSP00000252252.3:p.Gln157= | |
| NM_005555.3:c.470_471delinsAG | NP_005546.2:p.Gln157= | |
| NM_005555.4:c.470_471delinsAG MANE Select | NP_005546.2:p.Gln157= |