Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350120_47350121delinsAA , CM000672.2:g.47350120_47350121delinsAA | GRCh38 |
| NC_000010.10:g.48389241_48389242delinsTT , CM000672.1:g.48389241_48389242delinsTT | GRCh37 |
| NC_000010.9:g.48009247_48009248delinsTT | NCBI36 |
| NG_029718.1:g.6750_6751delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1636_1637delinsAA MANE Select | ENSP00000463151.1:p.Ala546Asn | |
| ENST00000584701.1:c.1636_1637delinsAA | ENSP00000463151.1:p.Ala546Asn | |
| NM_002900.2:c.1636_1637delinsAA | NP_002891.1:p.Ala546Asn | |
| NM_002900.3:c.1636_1637delinsAA MANE Select | NP_002891.1:p.Ala546Asn |