Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47349926_47349927delinsAC , CM000672.2:g.47349926_47349927delinsAC | GRCh38 |
| NC_000010.10:g.48389435_48389436delinsGT , CM000672.1:g.48389435_48389436delinsGT | GRCh37 |
| NC_000010.9:g.48009441_48009442delinsGT | NCBI36 |
| NG_029718.1:g.6556_6557delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1442_1443delinsAC MANE Select | ENSP00000463151.1:p.Asn481= | |
| ENST00000584701.1:c.1442_1443delinsAC | ENSP00000463151.1:p.Asn481= | |
| NM_002900.2:c.1442_1443delinsAC | NP_002891.1:p.Asn481= | |
| NM_002900.3:c.1442_1443delinsAC MANE Select | NP_002891.1:p.Asn481= |