Linked Data
dbSNP Id:
rs1433418335
gnomAD v2:
17-15930932-GT-G
gnomAD v3:
17-16027618-GT-G
gnomAD v4:
17-16027618-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16027623del , CM000679.2:g.16027623del | GRCh38 |
| NC_000017.10:g.15930937del , CM000679.1:g.15930937del | GRCh37 |
| NC_000017.9:g.15871662del | NCBI36 |
| NG_029806.1:g.33244del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.*101del MANE Select | ENSP00000261647.5:n.*101del | |
| ENST00000261647.9:c.*101del | ENSP00000261647.5:n.*101del | |
| ENST00000465567.1:n.1638del | ||
| ENST00000470649.1:c.247+921del | ENSP00000465627.1:n.247+921del | |
| ENST00000475723.5:c.1428del | ||
| ENST00000481107.1:n.1912del | ||
| NM_001271420.1:c.*101del | NP_001258349.1:n.*101del | |
| NM_017775.3:c.*101del | NP_060245.3:n.*101del | |
| XM_017024801.2:c.994+921del | XP_016880290.2:n.994+921del | |
| XM_017024802.2:c.994+921del | XP_016880291.2:n.994+921del | |
| NM_017775.4:c.*101del MANE Select | NP_060245.3:n.*101del | |
| NM_001271420.2:c.*101del | NP_001258349.1:n.*101del |