Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29072978_29072979delinsGT , CM000664.2:g.29072978_29072979delinsGT | GRCh38 |
| NC_000002.11:g.29295844_29295845delinsGT , CM000664.1:g.29295844_29295845delinsGT | GRCh37 |
| NC_000002.10:g.29149348_29149349delinsGT | NCBI36 |
| NG_021427.1:g.6283_6284delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.1283_1284delinsAC MANE Select | ENSP00000332809.4:p.Asp428= | |
| ENST00000331664.5:c.1283_1284delinsAC | ENSP00000332809.4:p.Asp428= | |
| NM_001029883.2:c.1283_1284delinsAC | NP_001025054.1:p.Asp428= | |
| XM_011532826.1:c.1283_1284delinsAC | XP_011531128.1:p.Asp428= | |
| XR_939901.1:n.185+3811_185+3812delinsGT | ||
| XR_939902.1:n.173+3823_173+3824delinsGT | ||
| NM_001029883.3:c.1283_1284delinsAC MANE Select | NP_001025054.1:p.Asp428= |