Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002868_21002869del , CM000664.2:g.21002868_21002869del | GRCh38 |
| NC_000002.11:g.21225740_21225741del , CM000664.1:g.21225740_21225741del | GRCh37 |
| NC_000002.10:g.21079245_21079246del | NCBI36 |
| NG_011793.1:g.46206_46207del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.12554_12555del MANE Select | ENSP00000233242.1:p.Lys4185SerfsTer6 | |
| ENST00000616098.4:c.12554_12555del | ENSP00000477990.1:p.Lys4185SerfsTer6 | |
| NM_000384.2:c.12554_12555del | NP_000375.2:p.Lys4185SerfsTer6 | |
| XM_011532809.1:c.5870-3595_5870-3594del | XP_011531111.1:n.5870-3595_5870-3594del | |
| NM_000384.3:c.12554_12555del MANE Select | NP_000375.3:p.Lys4185SerfsTer6 |