Linked Data
dbSNP Id:
rs765577905
ExAC:
16:30767904 CT / C
gnomAD v2:
16-30767904-CT-C
gnomAD v4:
16-30756583-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30756584del , CM000678.2:g.30756584del | GRCh38 |
| NC_000016.9:g.30767905del , CM000678.1:g.30767905del | GRCh37 |
| NC_000016.8:g.30675406del | NCBI36 |
| NG_016616.1:g.13286del | |
| NG_016616.2:g.13286del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563588.6:c.802-6del MANE Select | ENSP00000455607.1:n.802-6del | |
| ENST00000328273.11:c.814-6del | ENSP00000329968.7:n.814-6del | |
| ENST00000424889.7:c.802-6del | ENSP00000388571.3:n.802-6del | |
| ENST00000563588.5:c.802-6del | ENSP00000455607.1:n.802-6del | |
| ENST00000563913.5:n.1135-6del | ||
| ENST00000564838.5:n.931-6del | ||
| NM_000294.2:c.802-6del | NP_000285.1:n.802-6del | |
| NM_001172432.1:c.802-6del | NP_001165903.1:n.802-6del | |
| NM_000294.3:c.802-6del MANE Select | NP_000285.1:n.802-6del | |
| NM_001172432.2:c.802-6del | NP_001165903.1:n.802-6del |