Linked Data
ClinVar Variation Id:
94193
dbSNP Id:
rs34546217
ExAC:
12:49416046 TC / T
gnomAD v2:
12-49416046-TC-T
gnomAD v3:
12-49022263-TC-T
gnomAD v4:
12-49022263-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49022265del , CM000674.2:g.49022265del | GRCh38 |
| NC_000012.11:g.49416048del , CM000674.1:g.49416048del | GRCh37 |
| NC_000012.10:g.47702315del | NCBI36 |
| NG_027827.1:g.38061del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526209.2:c.382+16del | ||
| ENST00000681974.1:n.1084+16del | ||
| ENST00000682693.1:n.2046+16del | ||
| ENST00000682886.1:n.818+16del | ||
| ENST00000683543.2:c.16460+16del | ENSP00000506726.1:n.16460+16del | |
| ENST00000683988.1:c.383+16del | ENSP00000506939.1:n.383+16del | |
| ENST00000684428.1:c.1005+16del | ENSP00000507433.1:n.1005+16del | |
| ENST00000685024.1:c.1566+16del | ||
| ENST00000685166.1:c.16421+16del | ENSP00000509386.1:n.16421+16del | |
| ENST00000691932.1:c.413+16del | ENSP00000509037.1:n.413+16del | |
| ENST00000692637.1:c.16409+16del | ENSP00000509666.1:n.16409+16del | |
| ENST00000301067.12:c.16412+16del MANE Select | ENSP00000301067.7:n.16412+16del | |
| ENST00000301067.11:c.16412+16del | ENSP00000301067.7:n.16412+16del | |
| ENST00000526209.1:c.455+16del | ENSP00000435714.1:n.455+16del | |
| NM_003482.3:c.16412+16del | NP_003473.3:n.16412+16del | |
| XM_005269162.3:c.16412+16del | XP_005269219.1:n.16412+16del | |
| XM_006719614.2:c.16421+16del | XP_006719677.1:n.16421+16del | |
| XM_006719616.2:c.16409+16del | XP_006719679.1:n.16409+16del | |
| XM_011538770.1:c.16469+16del | XP_011537072.1:n.16469+16del | |
| XM_011538771.1:c.16466+16del | XP_011537073.1:n.16466+16del | |
| XM_011538772.1:c.16460+16del | XP_011537074.1:n.16460+16del | |
| XM_011538773.1:c.16457+16del | XP_011537075.1:n.16457+16del | |
| XM_011538774.1:c.16448+16del | XP_011537076.1:n.16448+16del | |
| XM_011538775.1:c.16403+16del | XP_011537077.1:n.16403+16del | |
| XM_011538776.1:c.16376+16del | XP_011537078.1:n.16376+16del | |
| XM_005269162.4:c.16412+16del | XP_005269219.1:n.16412+16del | |
| XM_006719614.4:c.16421+16del | XP_006719677.1:n.16421+16del | |
| XM_006719616.3:c.16409+16del | XP_006719679.1:n.16409+16del | |
| XM_011538770.2:c.16469+16del | XP_011537072.1:n.16469+16del | |
| XM_011538771.2:c.16466+16del | XP_011537073.1:n.16466+16del | |
| XM_011538772.2:c.16460+16del | XP_011537074.1:n.16460+16del | |
| XM_011538773.2:c.16457+16del | XP_011537075.1:n.16457+16del | |
| XM_011538774.2:c.16448+16del | XP_011537076.1:n.16448+16del | |
| XM_011538776.2:c.16376+16del | XP_011537078.1:n.16376+16del | |
| XR_001748874.1:n.16589+16del | ||
| NM_003482.4:c.16412+16del MANE Select | NP_003473.3:n.16412+16del |