Linked Data
ClinVar Variation Id:
1295892
ClinVar RCV Id:
RCV001723140
dbSNP Id:
rs61398915
gnomAD v2:
9-135172565-CAGACA-C
gnomAD v3:
9-132297178-CAGACA-C
gnomAD v4:
9-132297178-CAGACA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132297186_132297190del , CM000671.2:g.132297186_132297190del | GRCh38 |
| NC_000009.11:g.135172573_135172577del , CM000671.1:g.135172573_135172577del | GRCh37 |
| NC_000009.10:g.134162394_134162398del | NCBI36 |
| NG_007946.1:g.62803_62807del , LRG_268:g.62803_62807del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224140.6:c.5782-129_5782-125del MANE Select | ENSP00000224140.5:n.5782-129_5782-125del | |
| ENST00000224140.5:c.5782-129_5782-125del | ENSP00000224140.5:n.5782-129_5782-125del | |
| ENST00000436441.5:c.508-129_508-125del | ENSP00000409143.1:n.508-129_508-125del | |
| NM_015046.5:c.5782-129_5782-125del , LRG_268t1:c.5782-129_5782-125del | NP_055861.3:n.5782-129_5782-125del | |
| XM_005272171.1:c.5782-129_5782-125del | XP_005272228.1:n.5782-129_5782-125del | |
| XM_005272172.1:c.5782-129_5782-125del | XP_005272229.1:n.5782-129_5782-125del | |
| XM_005272173.1:c.5782-129_5782-125del | XP_005272230.1:n.5782-129_5782-125del | |
| XM_011518404.1:c.5782-129_5782-125del | XP_011516706.1:n.5782-129_5782-125del | |
| XM_011518405.1:c.5782-129_5782-125del | XP_011516707.1:n.5782-129_5782-125del | |
| XM_011518406.1:c.5782-129_5782-125del | XP_011516708.1:n.5782-129_5782-125del | |
| XM_011518407.1:c.5782-129_5782-125del | XP_011516709.1:n.5782-129_5782-125del | |
| XM_011518408.1:c.5782-129_5782-125del | XP_011516710.1:n.5782-129_5782-125del | |
| XR_929739.1:n.5698-129_5698-125del | ||
| NM_001351527.1:c.5782-129_5782-125del | NP_001338456.1:n.5782-129_5782-125del | |
| NM_001351528.1:c.5782-129_5782-125del | NP_001338457.1:n.5782-129_5782-125del | |
| NM_015046.6:c.5782-129_5782-125del | NP_055861.3:n.5782-129_5782-125del | |
| XM_005272172.3:c.5782-129_5782-125del | XP_005272229.1:n.5782-129_5782-125del | |
| XM_005272173.3:c.5782-129_5782-125del | XP_005272230.1:n.5782-129_5782-125del | |
| XM_011518404.3:c.5782-129_5782-125del | XP_011516706.1:n.5782-129_5782-125del | |
| XM_011518405.3:c.5782-129_5782-125del | XP_011516707.1:n.5782-129_5782-125del | |
| XM_011518406.2:c.5782-129_5782-125del | XP_011516708.1:n.5782-129_5782-125del | |
| XM_011518408.3:c.5782-129_5782-125del | XP_011516710.1:n.5782-129_5782-125del | |
| XM_017014496.1:c.235-129_235-125del | XP_016869985.1:n.235-129_235-125del | |
| XR_001746251.1:n.5337-129_5337-125del | ||
| XR_929739.2:n.5698-129_5698-125del | ||
| NM_015046.7:c.5782-129_5782-125del MANE Select | NP_055861.3:n.5782-129_5782-125del | |
| NM_001351528.2:c.5782-129_5782-125del | NP_001338457.1:n.5782-129_5782-125del | |
| NM_001351527.2:c.5782-129_5782-125del | NP_001338456.1:n.5782-129_5782-125del |