Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107710142del , CM000669.2:g.107710142del | GRCh38 |
| NC_000007.13:g.107350587del , CM000669.1:g.107350587del | GRCh37 |
| NC_000007.12:g.107137823del | NCBI36 |
| NG_008489.1:g.54508del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.2178del MANE Select | ENSP00000494017.1:p.Leu727SerfsTer7 | |
| ENST00000644846.1:c.834del | ||
| ENST00000265715.7:c.2178del | ENSP00000265715.3:p.Leu727SerfsTer7 | |
| ENST00000492030.2:n.377-13del | ||
| NM_000441.1:c.2178del | NP_000432.1:p.Leu727SerfsTer7 | |
| XM_005250425.1:c.2178del | XP_005250482.1:p.Leu727SerfsTer7 | |
| XM_005250425.2:c.2178del | XP_005250482.1:p.Leu727SerfsTer7 | |
| XM_017012318.1:c.2100del | XP_016867807.1:p.Leu701SerfsTer7 | |
| NM_000441.2:c.2178del MANE Select | NP_000432.1:p.Leu727SerfsTer7 |