Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94043558_94043559del , CM000663.2:g.94043558_94043559del | GRCh38 |
| NC_000001.10:g.94509114_94509115del , CM000663.1:g.94509114_94509115del | GRCh37 |
| NC_000001.9:g.94281702_94281703del | NCBI36 |
| NG_009073.1:g.82591_82592del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3051-84_3051-83del MANE Select | ENSP00000359245.3:n.3051-84_3051-83del | |
| ENST00000370225.3:c.3051-84_3051-83del | ENSP00000359245.3:n.3051-84_3051-83del | |
| ENST00000536513.5:c.-64-3470_-64-3469del | ENSP00000439707.2:n.-64-3470_-64-3469del | |
| NM_000350.2:c.3051-84_3051-83del | NP_000341.2:n.3051-84_3051-83del | |
| NM_000350.3:c.3051-84_3051-83del MANE Select | NP_000341.2:n.3051-84_3051-83del |