Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659099del , CM000685.2:g.136659099del | GRCh38 |
| NC_000023.10:g.135741258del , CM000685.1:g.135741258del | GRCh37 |
| NC_000023.9:g.135568924del | NCBI36 |
| NG_007280.1:g.15923del , LRG_141:g.15923del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695724.1:c.*88del | ENSP00000512122.1:n.*88del | |
| ENST00000695725.1:c.*25del | ENSP00000512123.1:n.*25del | |
| ENST00000695726.1:n.2438del | ||
| ENST00000695729.1:n.3273del | ||
| ENST00000370629.7:c.470del MANE Select | ENSP00000359663.2:p.Asn157MetfsTer5 | |
| ENST00000370628.2:c.407del | ENSP00000359662.2:p.Asn136MetfsTer5 | |
| ENST00000370629.6:c.470del | ENSP00000359663.2:p.Asn157MetfsTer5 | |
| NM_000074.2:c.470del , LRG_141t1:c.470del | NP_000065.1:p.Asn157MetfsTer5 | |
| NM_000074.3:c.470del MANE Select | NP_000065.1:p.Asn157MetfsTer5 |