Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215671325_215671326del , CM000663.2:g.215671325_215671326del | GRCh38 |
| NC_000001.10:g.215844667_215844668del , CM000663.1:g.215844667_215844668del | GRCh37 |
| NC_000001.9:g.213911290_213911291del | NCBI36 |
| NG_009497.1:g.757071_757072del | |
| NG_009497.2:g.757123_757124del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.13812-33_13812-32del MANE Select | ENSP00000305941.3:n.13812-33_13812-32del | |
| ENST00000674083.1:c.13812-33_13812-32del | ENSP00000501296.1:n.13812-33_13812-32del | |
| ENST00000307340.7:c.13812-33_13812-32del | ENSP00000305941.3:n.13812-33_13812-32del | |
| NM_206933.2:c.13812-33_13812-32del | NP_996816.2:n.13812-33_13812-32del | |
| NM_206933.3:c.13812-33_13812-32del | NP_996816.2:n.13812-33_13812-32del | |
| NM_206933.4:c.13812-33_13812-32del MANE Select | NP_996816.3:n.13812-33_13812-32del |