Linked Data
dbSNP Id:
rs575521015
gnomAD v2:
17-15931457-AT-A
gnomAD v3:
17-16028143-AT-A
gnomAD v4:
17-16028143-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16028144del , CM000679.2:g.16028144del | GRCh38 |
| NC_000017.10:g.15931458del , CM000679.1:g.15931458del | GRCh37 |
| NC_000017.9:g.15872183del | NCBI36 |
| NG_029806.1:g.33765del | |
| NG_047111.1:g.193603del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.*622del MANE Select | ENSP00000261647.5:n.*622del | |
| ENST00000261647.9:c.*622del | ENSP00000261647.5:n.*622del | |
| ENST00000465567.1:n.2159del | ||
| ENST00000470649.1:c.247+1442del | ENSP00000465627.1:n.247+1442del | |
| ENST00000475723.5:c.1949del | ||
| ENST00000481107.1:n.2433del | ||
| NM_001271420.1:c.*622del | NP_001258349.1:n.*622del | |
| NM_017775.3:c.*622del | NP_060245.3:n.*622del | |
| XM_017024801.2:c.994+1442del | XP_016880290.2:n.994+1442del | |
| XM_017024802.2:c.994+1442del | XP_016880291.2:n.994+1442del | |
| NM_017775.4:c.*622del MANE Select | NP_060245.3:n.*622del | |
| NM_001271420.2:c.*622del | NP_001258349.1:n.*622del |