Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228199_66228200delinsGA , CM000679.2:g.66228199_66228200delinsGA | GRCh38 |
| NC_000017.10:g.64224317_64224318delinsGA , CM000679.1:g.64224317_64224318delinsGA | GRCh37 |
| NC_000017.9:g.61654779_61654780delinsGA | NCBI36 |
| NG_012045.1:g.6239_6240delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.65-4_65-3delinsTC MANE Select | ENSP00000205948.6:n.65-4_65-3delinsTC | |
| ENST00000205948.10:c.65-4_65-3delinsTC | ENSP00000205948.6:n.65-4_65-3delinsTC | |
| ENST00000577982.1:c.65-4_65-3delinsTC | ENSP00000464301.1:n.65-4_65-3delinsTC | |
| ENST00000581797.5:c.-116-4_-116-3delinsTC | ENSP00000463553.1:n.-116-4_-116-3delinsTC | |
| NM_000042.2:c.65-4_65-3delinsTC | NP_000033.2:n.65-4_65-3delinsTC | |
| NM_000042.3:c.65-4_65-3delinsTC MANE Select | NP_000033.2:n.65-4_65-3delinsTC |