Linked Data
gnomAD v4:
17-41586861-G-GAGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586862_41586865dup , CM000679.2:g.41586862_41586865dup | GRCh38 |
| NC_000017.10:g.39743114_39743117dup , CM000679.1:g.39743114_39743117dup | GRCh37 |
| NC_000017.9:g.36996640_36996643dup | NCBI36 |
| NG_008624.1:g.5031_5034dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.-31_-28dup MANE Select | ENSP00000167586.6:n.-31_-28dup | |
| ENST00000167586.6:c.-31_-28dup | ENSP00000167586.6:n.-31_-28dup | |
| NM_000526.4:c.-31_-28dup | NP_000517.2:n.-31_-28dup | |
| NM_000526.5:c.-31_-28dup MANE Select | NP_000517.3:n.-31_-28dup |