Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154928577del , CM000685.2:g.154928577del | GRCh38 |
| NC_000023.10:g.154156852del , CM000685.1:g.154156852del | GRCh37 |
| NC_000023.9:g.153810046del | NCBI36 |
| NG_011403.1:g.99147del | |
| NG_011403.2:g.99147del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.5213del MANE Select | ENSP00000353393.4:p.Arg1738LysfsTer? | |
| ENST00000360256.8:c.5213del | ENSP00000353393.4:p.Arg1738LysfsTer? | |
| NM_000132.3:c.5213del | NP_000123.1:p.Arg1738LysfsTer? | |
| XM_011531126.1:c.5108del | XP_011529428.1:p.Arg1703LysfsTer? | |
| NM_000132.4:c.5213del MANE Select | NP_000123.1:p.Arg1738LysfsTer? |