Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68446853del , CM000663.2:g.68446853del | GRCh38 |
| NC_000001.10:g.68912536del , CM000663.1:g.68912536del | GRCh37 |
| NC_000001.9:g.68685124del | NCBI36 |
| NG_008472.1:g.8111del | |
| NG_008472.2:g.8111del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000329.3:c.106del MANE Select | NP_000320.1:p.Leu36SerfsTer? |
| ENST00000262340.6:c.106del MANE Select | ENSP00000262340.5:p.Leu36SerfsTer? |
| NM_000329.2:c.106del | NP_000320.1:p.Leu36SerfsTer? |
| ENST00000262340.5:c.106del | ENSP00000262340.5:p.Leu36SerfsTer? |
| XM_017002027.1:c.-32+1775del | XP_016857516.1:n.-32+1775del |