Linked Data
gnomAD v3:
15-78615739-A-ATTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
15-78615739-A-ATTTTTTTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78615761_78615762insTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000677.2:g.78615761_78615762insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000015.9:g.78908103_78908104insTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000677.1:g.78908103_78908104insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000015.8:g.76695158_76695159insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_016143.1:g.10556_10557insAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326828.6:c.377+1284_377+1285insAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | ENSP00000315602.5:n.377+1284_377+1285insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000326828.5:c.377+1284_377+1285insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000315602.5:n.377+1284_377+1285insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000348639.7:c.377+1284_377+1285insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000267951.4:n.377+1284_377+1285insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000559658.5:c.377+1284_377+1285insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000452896.1:n.377+1284_377+1285insAAAAAAAAAAAAAAAAAAAAA... | |
| NM_000743.4:c.377+1284_377+1285insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_000734.2:n.377+1284_377+1285insAAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001166694.1:c.377+1284_377+1285insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001160166.1:n.377+1284_377+1285insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NR_046313.1:n.878+1284_878+1285insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| XM_006720382.1:c.176+1284_176+1285insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_006720445.1:n.176+1284_176+1285insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_011521173.1:c.296+1284_296+1285insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_011519475.1:n.296+1284_296+1285insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_006720382.3:c.176+1284_176+1285insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_006720445.1:n.176+1284_176+1285insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_000743.5:c.377+1284_377+1285insAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | NP_000734.2:n.377+1284_377+1285insAAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001166694.2:c.377+1284_377+1285insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001160166.1:n.377+1284_377+1285insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NR_046313.2:n.579+1284_579+1285insAAAAAAAAAAAAAAAAAAAAAAAAAAAA |