Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215786867_215786868del , CM000663.2:g.215786867_215786868del | GRCh38 |
| NC_000001.10:g.215960209_215960210del , CM000663.1:g.215960209_215960210del | GRCh37 |
| NC_000001.9:g.214026832_214026833del | NCBI36 |
| NG_009497.1:g.641530_641531del | |
| NG_009497.2:g.641582_641583del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.10190_10191del MANE Select | NP_996816.3:p.Lys3397ArgfsTer20 |
| ENST00000307340.8:c.10190_10191del MANE Select | ENSP00000305941.3:p.Lys3397ArgfsTer20 |
| NM_206933.2:c.10190_10191del | NP_996816.2:p.Lys3397ArgfsTer20 |
| NM_206933.3:c.10190_10191del | NP_996816.2:p.Lys3397ArgfsTer20 |
| ENST00000307340.7:c.10190_10191del | ENSP00000305941.3:p.Lys3397ArgfsTer20 |
| ENST00000674083.1:c.10190_10191del | ENSP00000501296.1:p.Lys3397ArgfsTer20 |