Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675568del , CM000663.2:g.215675568del | GRCh38 |
| NC_000001.10:g.215848910del , CM000663.1:g.215848910del | GRCh37 |
| NC_000001.9:g.213915533del | NCBI36 |
| NG_009497.1:g.752829del | |
| NG_009497.2:g.752881del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12343del MANE Select | ENSP00000305941.3:p.Arg4115ValfsTer16 | |
| ENST00000674083.1:c.12343del | ENSP00000501296.1:p.Arg4115ValfsTer16 | |
| ENST00000307340.7:c.12343del | ENSP00000305941.3:p.Arg4115ValfsTer16 | |
| NM_206933.2:c.12343del | NP_996816.2:p.Arg4115ValfsTer16 | |
| NM_206933.3:c.12343del | NP_996816.2:p.Arg4115ValfsTer16 | |
| NM_206933.4:c.12343del MANE Select | NP_996816.3:p.Arg4115ValfsTer16 |