Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31000962_31000964del , CM000678.2:g.31000962_31000964del | GRCh38 |
| NC_000016.9:g.31012283_31012285del , CM000678.1:g.31012283_31012285del | GRCh37 |
| NC_000016.8:g.30919784_30919786del | NCBI36 |
| NG_041829.1:g.14549_14551del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052874.5:c.248_250del MANE Select | NP_443106.1:p.Lys83del |
| ENST00000215095.11:c.248_250del MANE Select | ENSP00000215095.5:p.Lys83del |
| NM_052874.4:c.248_250del | NP_443106.1:p.Lys83del |
| ENST00000215095.9:c.248_250del | ENSP00000215095.5:p.Lys83del |
| ENST00000561836.1:n.354_356del | |
| ENST00000565419.1:c.248_250del | ENSP00000455899.1:p.Lys83del |
| ENST00000565419.2:c.248_250del | ENSP00000455899.1:p.Lys83del |
| XM_017022893.1:c.230_232del | XP_016878382.1:p.Lys77del |