Linked Data
ClinVar Variation Id:
1098989
ClinVar RCV Id:
RCV001421153
dbSNP Id:
rs751871670
ExAC:
1:179528898 TA / T
gnomAD v2:
1-179528898-TA-T
gnomAD v4:
1-179559763-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.179559767del , CM000663.2:g.179559767del | GRCh38 |
| NC_000001.10:g.179528902del , CM000663.1:g.179528902del | GRCh37 |
| NC_000001.9:g.177795525del | NCBI36 |
| NG_007535.1:g.21186del , LRG_887:g.21186del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367615.9:c.452-3del MANE Select | ENSP00000356587.4:n.452-3del | |
| ENST00000367615.8:c.452-3del | ENSP00000356587.4:n.452-3del | |
| ENST00000367616.4:c.452-3del | ENSP00000356588.4:n.452-3del | |
| NM_001297575.1:c.452-3del | NP_001284504.1:n.452-3del | |
| NM_014625.3:c.452-3del , LRG_887t1:c.452-3del | NP_055440.1:n.452-3del | |
| XM_005245483.2:c.275-3del | XP_005245540.1:n.275-3del | |
| XM_006711529.2:c.452-3del | XP_006711592.1:n.452-3del | |
| XM_005245483.3:c.275-3del | XP_005245540.1:n.275-3del | |
| XM_017002298.1:c.379-3del | XP_016857787.1:n.379-3del | |
| XM_017002299.1:c.452-3del | XP_016857788.1:n.452-3del | |
| NM_001297575.2:c.452-3del | NP_001284504.1:n.452-3del | |
| NM_014625.4:c.452-3del MANE Select | NP_055440.1:n.452-3del |