Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154966382del , CM000685.2:g.154966382del | GRCh38 |
| NC_000023.10:g.154194657del , CM000685.1:g.154194657del | GRCh37 |
| NC_000023.9:g.153847851del | NCBI36 |
| NG_011403.1:g.61346del | |
| NG_011403.2:g.61346del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.1271+48del MANE Select | ENSP00000353393.4:n.1271+48del | |
| ENST00000647125.1:c.*1147+48del | ENSP00000496062.1:n.*1147+48del | |
| ENST00000360256.8:c.1271+48del | ENSP00000353393.4:n.1271+48del | |
| ENST00000483822.2:n.91+48del | ||
| NM_000132.3:c.1271+48del | NP_000123.1:n.1271+48del | |
| XM_011531126.1:c.1166+48del | XP_011529428.1:n.1166+48del | |
| NM_000132.4:c.1271+48del MANE Select | NP_000123.1:n.1271+48del |