Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172913_172914delinsAT , CM000678.2:g.172913_172914delinsAT | GRCh38 |
| NC_000016.9:g.222912_222913delinsAT , CM000678.1:g.222912_222913delinsAT | GRCh37 |
| NC_000016.8:g.162912_162913delinsAT | NCBI36 |
| NG_000006.1:g.33776_33777delinsAT | |
| NG_059186.1:g.1263_1264delinsAT | |
| NG_059271.1:g.5067_5068delinsAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.1_2delinsAT MANE Select | ENSP00000251595.6:p.Met1= | |
| ENST00000251595.10:c.1_2delinsAT | ENSP00000251595.6:p.Met1= | |
| ENST00000397806.1:c.-47_-46delinsAT | ENSP00000380908.1:n.-47_-46delinsAT | |
| ENST00000482565.1:n.20_21delinsAT | ||
| NM_000517.4:c.1_2delinsAT | NP_000508.1:p.Met1= | |
| NM_000517.6:c.1_2delinsAT MANE Select | NP_000508.1:p.Met1= |