Linked Data
gnomAD v4:
17-82727567-CTCCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82727568_82727571del , CM000679.2:g.82727568_82727571del | GRCh38 |
| NC_000017.10:g.80685444_80685447del , CM000679.1:g.80685444_80685447del | GRCh37 |
| NC_000017.9:g.78278733_78278736del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269373.11:c.*397_*400del MANE Select | ENSP00000269373.6:n.*397_*400del | |
| ENST00000269373.10:c.*397_*400del | ENSP00000269373.6:n.*397_*400del | |
| ENST00000571594.1:c.53+401_53+404del | ENSP00000459751.1:n.53+401_53+404del | |
| NM_024619.3:c.*397_*400del | NP_078895.2:n.*397_*400del | |
| NR_046408.1:n.1505_1508del | ||
| XM_024450948.1:c.*397_*400del | XP_024306716.1:n.*397_*400del | |
| NM_024619.4:c.*397_*400del MANE Select | NP_078895.2:n.*397_*400del | |
| NR_046408.2:n.1505_1508del |