Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867248_215867249del , CM000663.2:g.215867248_215867249del | GRCh38 |
| NC_000001.10:g.216040590_216040591del , CM000663.1:g.216040590_216040591del | GRCh37 |
| NC_000001.9:g.214107213_214107214del | NCBI36 |
| NG_009497.1:g.561148_561149del | |
| NG_009497.2:g.561200_561201del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8682-79_8682-78del MANE Select | ENSP00000305941.3:n.8682-79_8682-78del | |
| ENST00000674083.1:c.8682-79_8682-78del | ENSP00000501296.1:n.8682-79_8682-78del | |
| ENST00000307340.7:c.8682-79_8682-78del | ENSP00000305941.3:n.8682-79_8682-78del | |
| NM_206933.2:c.8682-79_8682-78del | NP_996816.2:n.8682-79_8682-78del | |
| NM_206933.3:c.8682-79_8682-78del | NP_996816.2:n.8682-79_8682-78del | |
| NM_206933.4:c.8682-79_8682-78del MANE Select | NP_996816.3:n.8682-79_8682-78del |