Linked Data
dbSNP Id:
rs61300844
gnomAD v3:
17-41584069-CTTTTTTTTTTTTTTTTTTTTTT-C
gnomAD v4:
17-41584069-CTTTTTTTTTTTTTTTTTTTTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584077_41584098del , CM000679.2:g.41584077_41584098del | GRCh38 |
| NC_000017.10:g.39740329_39740350del , CM000679.1:g.39740329_39740350del | GRCh37 |
| NC_000017.9:g.36993855_36993876del | NCBI36 |
| NG_008624.1:g.7805_7826del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.765+166_766-149del MANE Select | ENSP00000167586.6:n.765+166_766-149del | |
| ENST00000167586.6:c.765+166_766-149del | ENSP00000167586.6:n.765+166_766-149del | |
| ENST00000476662.1:n.215+166_216-149del | ||
| NM_000526.4:c.765+166_766-149del | NP_000517.2:n.765+166_766-149del | |
| NM_000526.5:c.765+166_766-149del MANE Select | NP_000517.3:n.765+166_766-149del |