Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909393del , CM000679.2:g.42909393del | GRCh38 |
| NC_000017.10:g.41061410del , CM000679.1:g.41061410del | GRCh37 |
| NC_000017.9:g.38314936del | NCBI36 |
| NG_011808.1:g.13596del , LRG_147:g.13596del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.537del MANE Select | ENSP00000253801.1:p.Gln180LysfsTer? | |
| ENST00000253801.6:c.537del | ENSP00000253801.1:p.Gln180LysfsTer? | |
| ENST00000585489.1:c.447-1522del | ENSP00000466202.1:n.447-1522del | |
| ENST00000592383.5:c.460del | ENSP00000465958.1:p.Ser154GlnfsTer? | |
| NM_000151.3:c.537del | NP_000142.2:p.Gln180LysfsTer? | |
| NM_001270397.1:c.460del | NP_001257326.1:p.Ser154GlnfsTer? | |
| NM_000151.4:c.537del MANE Select | NP_000142.2:p.Gln180LysfsTer? | |
| NM_001270397.2:c.460del | NP_001257326.1:p.Ser154GlnfsTer? |