Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6075049_6075050del , CM000682.2:g.6075049_6075050del | GRCh38 |
| NC_000020.10:g.6055696_6055697del , CM000682.1:g.6055696_6055697del | GRCh37 |
| NC_000020.9:g.6003696_6003697del | NCBI36 |
| NG_016213.1:g.53496_53497del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017671.5:c.*2124_*2125del MANE Select | NP_060141.3:n.*2124_*2125del |
| ENST00000217289.9:c.*2124_*2125del MANE Select | ENSP00000217289.4:n.*2124_*2125del |
| NM_017671.4:c.*2124_*2125del | NP_060141.3:n.*2124_*2125del |
| ENST00000217289.8:c.*2124_*2125del | ENSP00000217289.4:n.*2124_*2125del |
| ENST00000478194.1:n.3118_3119del | |
| XM_024451935.1:c.*2124_*2125del | XP_024307703.1:n.*2124_*2125del |