Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111071832_111071833del , CM000667.2:g.111071832_111071833del | GRCh38 |
| NC_000005.9:g.110407530_110407531del , CM000667.1:g.110407530_110407531del | GRCh37 |
| NC_000005.8:g.110435429_110435430del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344895.4:c.-59_-58del MANE Select | ENSP00000339804.3:n.-59_-58del | |
| ENST00000344895.3:c.-59_-58del | ENSP00000339804.3:n.-59_-58del | |
| ENST00000420978.6:c.35-93_35-92del | ENSP00000399099.2:n.35-93_35-92del | |
| NM_033035.4:c.-59_-58del | NP_149024.1:n.-59_-58del | |
| NR_045089.1:n.1439-93_1439-92del | ||
| NM_033035.5:c.-59_-58del MANE Select | NP_149024.1:n.-59_-58del | |
| NR_045089.2:n.1457-93_1457-92del |