Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728371_215728372del , CM000663.2:g.215728371_215728372del | GRCh38 |
| NC_000001.10:g.215901713_215901714del , CM000663.1:g.215901713_215901714del | GRCh37 |
| NC_000001.9:g.213968336_213968337del | NCBI36 |
| NG_009497.1:g.700025_700026del | |
| NG_009497.2:g.700077_700078del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11724_11725del MANE Select | ENSP00000305941.3:p.Ile3909Ter | |
| ENST00000674083.1:c.11724_11725del | ENSP00000501296.1:p.Ile3909Ter | |
| ENST00000307340.7:c.11724_11725del | ENSP00000305941.3:p.Ile3909Ter | |
| NM_206933.2:c.11724_11725del | NP_996816.2:p.Ile3909Ter | |
| NM_206933.3:c.11724_11725del | NP_996816.2:p.Ile3909Ter | |
| NM_206933.4:c.11724_11725del MANE Select | NP_996816.3:p.Ile3909Ter |