Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659103del , CM000685.2:g.136659103del | GRCh38 |
| NC_000023.10:g.135741262del , CM000685.1:g.135741262del | GRCh37 |
| NC_000023.9:g.135568928del | NCBI36 |
| NG_007280.1:g.15927del , LRG_141:g.15927del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695724.1:c.*92del | ENSP00000512122.1:n.*92del | |
| ENST00000695725.1:c.*29del | ENSP00000512123.1:n.*29del | |
| ENST00000695726.1:n.2442del | ||
| ENST00000695729.1:n.3277del | ||
| ENST00000370629.7:c.474del MANE Select | ENSP00000359663.2:p.Lys159AsnfsTer3 | |
| ENST00000370628.2:c.411del | ENSP00000359662.2:p.Lys138AsnfsTer3 | |
| ENST00000370629.6:c.474del | ENSP00000359663.2:p.Lys159AsnfsTer3 | |
| NM_000074.2:c.474del , LRG_141t1:c.474del | NP_000065.1:p.Lys159AsnfsTer3 | |
| NM_000074.3:c.474del MANE Select | NP_000065.1:p.Lys159AsnfsTer3 |