Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583485_41583486delinsTA , CM000679.2:g.41583485_41583486delinsTA | GRCh38 |
| NC_000017.10:g.39739737_39739738delinsTA , CM000679.1:g.39739737_39739738delinsTA | GRCh37 |
| NC_000017.9:g.36993263_36993264delinsTA | NCBI36 |
| NG_008624.1:g.8410_8411delinsTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1054-31_1054-30delinsTA MANE Select | ENSP00000167586.6:n.1054-31_1054-30delinsTA | |
| ENST00000167586.6:c.1054-31_1054-30delinsTA | ENSP00000167586.6:n.1054-31_1054-30delinsTA | |
| ENST00000476662.1:n.504-31_504-30delinsTA | ||
| NM_000526.4:c.1054-31_1054-30delinsTA | NP_000517.2:n.1054-31_1054-30delinsTA | |
| NM_000526.5:c.1054-31_1054-30delinsTA MANE Select | NP_000517.3:n.1054-31_1054-30delinsTA |