Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353293_69353294del , CM000674.2:g.69353293_69353294del | GRCh38 |
| NC_000012.11:g.69747073_69747074del , CM000674.1:g.69747073_69747074del | GRCh37 |
| NC_000012.10:g.68033340_68033341del | NCBI36 |
| NG_008195.1:g.9940_9941del , LRG_768:g.9940_9941del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*74_*75del MANE Select | ENSP00000261267.2:n.*74_*75del | |
| ENST00000261267.6:c.*74_*75del | ENSP00000261267.2:n.*74_*75del | |
| ENST00000549690.1:c.*28_*29del | ENSP00000449898.1:n.*28_*29del | |
| NM_000239.2:c.*74_*75del , LRG_768t1:c.*74_*75del | NP_000230.1:n.*74_*75del | |
| NM_000239.3:c.*74_*75del MANE Select | NP_000230.1:n.*74_*75del |