Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131890513_131890514del , CM000668.2:g.131890513_131890514del | GRCh38 |
| NC_000006.11:g.132211653_132211654del , CM000668.1:g.132211653_132211654del | GRCh37 |
| NC_000006.10:g.132253346_132253347del | NCBI36 |
| NG_008206.1:g.87498_87499del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.1211_1212del | ||
| ENST00000647893.1:c.*2_*3del MANE Select | ENSP00000498074.1:n.*2_*3del | |
| ENST00000360971.6:c.*2_*3del | ENSP00000354238.2:n.*2_*3del | |
| ENST00000513998.5:c.*1617_*1618del | ENSP00000422424.1:n.*1617_*1618del | |
| NM_006208.2:c.*2_*3del | NP_006199.2:n.*2_*3del | |
| XM_011535896.1:c.*2_*3del | XP_011534198.1:n.*2_*3del | |
| NM_006208.3:c.*2_*3del MANE Select | NP_006199.2:n.*2_*3del |