Linked Data
dbSNP Id:
rs1403946196
gnomAD v2:
19-1207258-TTC-T
gnomAD v3:
19-1207259-TTC-T
gnomAD v4:
19-1207259-TTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1207261_1207262del , CM000681.2:g.1207261_1207262del | GRCh38 |
| NC_000019.9:g.1207260_1207261del , CM000681.1:g.1207260_1207261del | GRCh37 |
| NC_000019.8:g.1158260_1158261del | NCBI36 |
| NG_007460.2:g.22855_22856del , LRG_319:g.22855_22856del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.290+58_290+59del | ENSP00000490268.2:n.290+58_290+59del | |
| ENST00000585748.3:c.-82-11156_-82-11155del | ENSP00000477641.2:n.-82-11156_-82-11155del | |
| ENST00000585851.2:c.290+58_290+59del | ENSP00000467912.2:n.290+58_290+59del | |
| ENST00000326873.12:c.290+58_290+59del MANE Select | ENSP00000324856.6:n.290+58_290+59del | |
| ENST00000652231.1:c.290+58_290+59del | ENSP00000498804.1:n.290+58_290+59del | |
| ENST00000326873.11:c.290+58_290+59del | ENSP00000324856.6:n.290+58_290+59del | |
| ENST00000585748.2:c.-82-11156_-82-11155del | ENSP00000477641.1:n.-82-11156_-82-11155del | |
| ENST00000585851.1:c.290+58_290+59del | ENSP00000467912.1:n.290+58_290+59del | |
| ENST00000586243.5:c.290+58_290+59del | ENSP00000467240.2:n.290+58_290+59del | |
| ENST00000586358.5:n.113+58_113+59del | ||
| ENST00000589152.5:n.380+58_380+59del | ||
| ENST00000593219.5:c.290+58_290+59del | ENSP00000466610.1:n.290+58_290+59del | |
| NM_000455.4:c.290+58_290+59del , LRG_319t1:c.290+58_290+59del | NP_000446.1:n.290+58_290+59del | |
| XM_005259617.1:c.290+58_290+59del | XP_005259674.1:n.290+58_290+59del | |
| XM_005259618.3:c.290+58_290+59del | XP_005259675.1:n.290+58_290+59del | |
| XM_011528209.1:c.-64+58_-64+59del | XP_011526511.1:n.-64+58_-64+59del | |
| XR_936204.1:n.915+58_915+59del | ||
| XM_005259617.3:c.290+58_290+59del | XP_005259674.1:n.290+58_290+59del | |
| XM_011528209.2:c.-64+58_-64+59del | XP_011526511.1:n.-64+58_-64+59del | |
| XR_001753738.2:n.915+58_915+59del | ||
| XR_001753739.1:n.915+58_915+59del | ||
| XR_001753740.2:n.915+58_915+59del | ||
| NM_000455.5:c.290+58_290+59del MANE Select | NP_000446.1:n.290+58_290+59del |