Linked Data
ClinVar Variation Id:
2060559
ClinVar RCV Id:
RCV002947809
dbSNP Id:
rs1589748657
gnomAD v3:
9-132330511-GA-G
gnomAD v4:
9-132330511-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132330514del , CM000671.2:g.132330514del | GRCh38 |
| NC_000009.11:g.135205901del , CM000671.1:g.135205901del | GRCh37 |
| NC_000009.10:g.134195722del | NCBI36 |
| NG_007946.1:g.29474del , LRG_268:g.29474del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224140.6:c.1099-13del MANE Select | ENSP00000224140.5:n.1099-13del | |
| ENST00000224140.5:c.1099-13del | ENSP00000224140.5:n.1099-13del | |
| NM_015046.5:c.1099-13del , LRG_268t1:c.1099-13del | NP_055861.3:n.1099-13del | |
| XM_005272171.1:c.1099-13del | XP_005272228.1:n.1099-13del | |
| XM_005272172.1:c.1099-13del | XP_005272229.1:n.1099-13del | |
| XM_005272173.1:c.1099-13del | XP_005272230.1:n.1099-13del | |
| XM_011518404.1:c.1099-13del | XP_011516706.1:n.1099-13del | |
| XM_011518405.1:c.1099-13del | XP_011516707.1:n.1099-13del | |
| XM_011518406.1:c.1099-13del | XP_011516708.1:n.1099-13del | |
| XM_011518407.1:c.1099-13del | XP_011516709.1:n.1099-13del | |
| XM_011518408.1:c.1099-13del | XP_011516710.1:n.1099-13del | |
| XR_929739.1:n.1283-13del | ||
| NM_001351527.1:c.1099-13del | NP_001338456.1:n.1099-13del | |
| NM_001351528.1:c.1099-13del | NP_001338457.1:n.1099-13del | |
| NM_015046.6:c.1099-13del | NP_055861.3:n.1099-13del | |
| XM_005272172.3:c.1099-13del | XP_005272229.1:n.1099-13del | |
| XM_005272173.3:c.1099-13del | XP_005272230.1:n.1099-13del | |
| XM_011518404.3:c.1099-13del | XP_011516706.1:n.1099-13del | |
| XM_011518405.3:c.1099-13del | XP_011516707.1:n.1099-13del | |
| XM_011518406.2:c.1099-13del | XP_011516708.1:n.1099-13del | |
| XM_011518408.3:c.1099-13del | XP_011516710.1:n.1099-13del | |
| XR_001746251.1:n.1283-13del | ||
| XR_929739.2:n.1283-13del | ||
| NM_015046.7:c.1099-13del MANE Select | NP_055861.3:n.1099-13del | |
| NM_001351528.2:c.1099-13del | NP_001338457.1:n.1099-13del | |
| NM_001351527.2:c.1099-13del | NP_001338456.1:n.1099-13del |