Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122443_72122444insG , CM000679.2:g.72122443_72122444insG | GRCh38 |
| NC_000017.10:g.70118584_70118585insG , CM000679.1:g.70118584_70118585insG | GRCh37 |
| NC_000017.9:g.67630179_67630180insG | NCBI36 |
| NG_012490.1:g.6424_6425insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.432-276_432-275insG MANE Select | ENSP00000245479.2:n.432-276_432-275insG | |
| ENST00000245479.2:c.432-276_432-275insG | ENSP00000245479.2:n.432-276_432-275insG | |
| NM_000346.3:c.432-276_432-275insG | NP_000337.1:n.432-276_432-275insG | |
| NM_000346.4:c.432-276_432-275insG MANE Select | NP_000337.1:n.432-276_432-275insG |