Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898626_4898627del , CM000679.2:g.4898626_4898627del | GRCh38 |
| NC_000017.10:g.4801921_4801922del , CM000679.1:g.4801921_4801922del | GRCh37 |
| NC_000017.9:g.4742700_4742701del | NCBI36 |
| NG_008029.2:g.9449_9450del | |
| NG_028005.1:g.70287_70288del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*109_*110del MANE Select | ENSP00000497829.1:n.*109_*110del | |
| ENST00000649830.1:c.*227_*228del | ENSP00000496907.1:n.*227_*228del | |
| ENST00000652550.1:n.1317_1318del | ||
| ENST00000293780.4:c.*109_*110del | ENSP00000293780.4:n.*109_*110del | |
| ENST00000572438.1:n.1277_1278del | ||
| NM_000080.3:c.*109_*110del | NP_000071.1:n.*109_*110del | |
| NM_000080.4:c.*109_*110del MANE Select | NP_000071.1:n.*109_*110del | |
| XM_017024115.1:c.*109_*110del | XP_016879604.1:n.*109_*110del |