Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739389_120739390delinsAC , CM000674.2:g.120739389_120739390delinsAC | GRCh38 |
| NC_000012.11:g.121177192_121177193delinsAC , CM000674.1:g.121177192_121177193delinsAC | GRCh37 |
| NC_000012.10:g.119661575_119661576delinsAC | NCBI36 |
| NG_007991.1:g.18622_18623delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.1180_1181delinsAC MANE Select | ENSP00000242592.4:p.Thr394= | |
| ENST00000242592.8:c.1180_1181delinsAC | ENSP00000242592.4:p.Thr394= | |
| ENST00000411593.2:c.1168_1169delinsAC | ENSP00000401045.2:p.Thr390= | |
| NM_000017.3:c.1180_1181delinsAC | NP_000008.1:p.Thr394= | |
| NM_001302554.1:c.1168_1169delinsAC | NP_001289483.1:p.Thr390= | |
| NM_000017.4:c.1180_1181delinsAC MANE Select | NP_000008.1:p.Thr394= | |
| NM_001302554.2:c.1168_1169delinsAC | NP_001289483.1:p.Thr390= |