Linked Data
gnomAD v4:
17-72123571-C-CCCCCCCCCCCAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123571_72123572insCCCCCCCCCCAA , CM000679.2:g.72123571_72123572insCCCCCCCCCCAA | GRCh38 |
| NC_000017.10:g.70119712_70119713insCCCCCCCCCCAA , CM000679.1:g.70119712_70119713insCCCCCCCCCCAA | GRCh37 |
| NC_000017.9:g.67631307_67631308insCCCCCCCCCCAA | NCBI36 |
| NG_012490.1:g.7552_7553insCCCCCCCCCCAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.714_715insCCCCCCCCCCAA MANE Select | ENSP00000245479.2:p.Pro238_Thr239insProProProGln | |
| ENST00000245479.2:c.714_715insCCCCCCCCCCAA | ENSP00000245479.2:p.Pro238_Thr239insProProProGln | |
| NM_000346.3:c.714_715insCCCCCCCCCCAA | NP_000337.1:p.Pro238_Thr239insProProProGln | |
| NM_000346.4:c.714_715insCCCCCCCCCCAA MANE Select | NP_000337.1:p.Pro238_Thr239insProProProGln |