Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8012386_8012398del , CM000679.2:g.8012386_8012398del | GRCh38 |
| NC_000017.10:g.7915704_7915716del , CM000679.1:g.7915704_7915716del | GRCh37 |
| NC_000017.9:g.7856429_7856441del | NCBI36 |
| NG_009092.1:g.14717_14729del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.1956+36_1956+48del MANE Select | ENSP00000254854.4:n.1956+36_1956+48del | |
| ENST00000254854.4:c.1956+36_1956+48del | ENSP00000254854.4:n.1956+36_1956+48del | |
| NM_000180.3:c.1956+36_1956+48del | NP_000171.1:n.1956+36_1956+48del | |
| XM_011523816.1:c.1956+36_1956+48del | XP_011522118.1:n.1956+36_1956+48del | |
| NM_000180.4:c.1956+36_1956+48del MANE Select | NP_000171.1:n.1956+36_1956+48del |