Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23429457_23429458del , CM000676.2:g.23429457_23429458del | GRCh38 |
| NC_000014.8:g.23898666_23898667del , CM000676.1:g.23898666_23898667del | GRCh37 |
| NC_000014.7:g.22968506_22968507del | NCBI36 |
| NG_007884.1:g.11204_11205del , LRG_384:g.11204_11205del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.1139-111_1139-110del MANE Select | ENSP00000347507.3:n.1139-111_1139-110del | |
| ENST00000355349.3:c.1139-111_1139-110del | ENSP00000347507.3:n.1139-111_1139-110del | |
| NM_000257.3:c.1139-111_1139-110del | NP_000248.2:n.1139-111_1139-110del | |
| XR_245686.3:n.1245-111_1245-110del | ||
| XM_017021340.1:c.1139-111_1139-110del | XP_016876829.1:n.1139-111_1139-110del | |
| NM_000257.4:c.1139-111_1139-110del MANE Select | NP_000248.2:n.1139-111_1139-110del |