Linked Data
gnomAD v4:
17-82727481-GGGGAGGGTATCCGGTGCGCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82727488_82727507del , CM000679.2:g.82727488_82727507del | GRCh38 |
| NC_000017.10:g.80685364_80685383del , CM000679.1:g.80685364_80685383del | GRCh37 |
| NC_000017.9:g.78278653_78278672del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269373.11:c.*317_*336del MANE Select | ENSP00000269373.6:n.*317_*336del | |
| ENST00000269373.10:c.*317_*336del | ENSP00000269373.6:n.*317_*336del | |
| ENST00000571594.1:c.53+321_53+340del | ENSP00000459751.1:n.53+321_53+340del | |
| NM_024619.3:c.*317_*336del | NP_078895.2:n.*317_*336del | |
| NR_046408.1:n.1425_1444del | ||
| XM_024450948.1:c.*317_*336del | XP_024306716.1:n.*317_*336del | |
| NM_024619.4:c.*317_*336del MANE Select | NP_078895.2:n.*317_*336del | |
| NR_046408.2:n.1425_1444del |