Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780645_94780646delinsAC , CM000672.2:g.94780645_94780646delinsAC | GRCh38 |
| NC_000010.10:g.96540402_96540403delinsAC , CM000672.1:g.96540402_96540403delinsAC | GRCh37 |
| NC_000010.9:g.96530392_96530393delinsAC | NCBI36 |
| NG_008384.2:g.22940_22941delinsAC | |
| NG_008384.3:g.22965_22966delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.628_629delinsAC MANE Select | ENSP00000360372.3:p.Thr210= | |
| ENST00000645461.1:n.1681_1682delinsAC | ||
| ENST00000371321.7:c.628_629delinsAC | ENSP00000360372.3:p.Thr210= | |
| ENST00000464755.1:c.1391_1392delinsAC | ENSP00000483243.1:n.1391_1392delinsAC | |
| NM_000769.2:c.628_629delinsAC | NP_000760.1:p.Thr210= | |
| NM_000769.4:c.628_629delinsAC MANE Select | NP_000760.1:p.Thr210= |