Linked Data
ClinVar Variation Id:
492523
ClinVar RCV Id:
RCV002061948
dbSNP Id:
rs764973846
ExAC:
19:1218398 CT / C
gnomAD v2:
19-1218398-CT-C
gnomAD v3:
19-1218399-CT-C
gnomAD v4:
19-1218399-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1218400del , CM000681.2:g.1218400del | GRCh38 |
| NC_000019.9:g.1218399del , CM000681.1:g.1218399del | GRCh37 |
| NC_000019.8:g.1169399del | NCBI36 |
| NG_007460.2:g.33994del , LRG_319:g.33994del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000585465.3:c.291-17del | ENSP00000490268.2:n.291-17del | |
| ENST00000585748.3:c.-82-17del | ENSP00000477641.2:n.-82-17del | |
| ENST00000585851.2:c.291-1973del | ENSP00000467912.2:n.291-1973del | |
| ENST00000326873.12:c.291-17del MANE Select | ENSP00000324856.6:n.291-17del | |
| ENST00000652231.1:c.291-17del | ENSP00000498804.1:n.291-17del | |
| ENST00000326873.11:c.291-17del | ENSP00000324856.6:n.291-17del | |
| ENST00000585748.2:c.-82-17del | ENSP00000477641.1:n.-82-17del | |
| ENST00000585851.1:c.291-1973del | ENSP00000467912.1:n.291-1973del | |
| ENST00000586243.5:c.291-17del | ENSP00000467240.2:n.291-17del | |
| ENST00000586358.5:n.114-17del | ||
| ENST00000589152.5:n.381-17del | ||
| ENST00000593219.5:c.*116-17del | ENSP00000466610.1:n.*116-17del | |
| NM_000455.4:c.291-17del , LRG_319t1:c.291-17del | NP_000446.1:n.291-17del | |
| XM_005259617.1:c.291-17del | XP_005259674.1:n.291-17del | |
| XM_005259618.3:c.291-17del | XP_005259675.1:n.291-17del | |
| XM_011528209.1:c.69-17del | XP_011526511.1:n.69-17del | |
| XR_936204.1:n.916-17del | ||
| XM_005259617.3:c.291-17del | XP_005259674.1:n.291-17del | |
| XM_011528209.2:c.69-17del | XP_011526511.1:n.69-17del | |
| XR_001753738.2:n.916-17del | ||
| XR_001753739.1:n.916-17del | ||
| XR_001753740.2:n.916-17del | ||
| NM_000455.5:c.291-17del MANE Select | NP_000446.1:n.291-17del |