Linked Data
gnomAD v4:
17-75516133-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516136del , CM000679.2:g.75516136del | GRCh38 |
| NC_000017.10:g.73512217del , CM000679.1:g.73512217del | GRCh37 |
| NC_000017.9:g.71023812del | NCBI36 |
| NG_013041.1:g.4609del | |
| NG_033152.1:g.4450del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434205.8:c.-333del | ENSP00000406559.4:n.-333del | |
| ENST00000679370.1:n.193del | ||
| ENST00000434205.7:c.-333del | ENSP00000406559.3:n.-333del | |
| XM_006721821.2:c.-498del | XP_006721884.1:n.-498del |