Linked Data
gnomAD v4:
17-4710593-GGGAGGGGGAAGAGGCGAGAGCGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4710600_4710622del , CM000679.2:g.4710600_4710622del | GRCh38 |
| NC_000017.10:g.4613895_4613917del , CM000679.1:g.4613895_4613917del | GRCh37 |
| NC_000017.9:g.4560644_4560666del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269260.6:c.-122_-100del | ENSP00000269260.2:n.-122_-100del | |
| NM_001257328.1:c.-122_-100del | NP_001244257.1:n.-122_-100del | |
| NM_001257329.1:c.-122_-100del | NP_001244258.1:n.-122_-100del | |
| NM_001257330.1:c.-122_-100del | NP_001244259.1:n.-122_-100del | |
| NM_001257331.1:c.-122_-100del | NP_001244260.1:n.-122_-100del | |
| NM_004313.3:c.-122_-100del | NP_004304.1:n.-122_-100del | |
| NM_199004.1:c.-122_-100del | NP_945355.1:n.-122_-100del | |
| NR_047516.1:n.107_129del | ||
| NM_001330064.1:c.-622_-600del | NP_001316993.1:n.-622_-600del |