Linked Data
dbSNP Id:
rs28942372
gnomAD v2:
17-26111473-CCAAA-C
gnomAD v3:
17-27784447-CCAAA-C
gnomAD v4:
17-27784447-CCAAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27784452_27784455del , CM000679.2:g.27784452_27784455del | GRCh38 |
| NC_000017.10:g.26111478_26111481del , CM000679.1:g.26111478_26111481del | GRCh37 |
| NC_000017.9:g.23135605_23135608del | NCBI36 |
| NG_011470.1:g.21079_21082del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697337.1:c.319-1345_319-1342del | ENSP00000513259.1:n.319-1345_319-1342del | |
| ENST00000697338.1:c.316-1345_316-1342del | ENSP00000513260.1:n.316-1345_316-1342del | |
| ENST00000697339.1:c.315+4358_315+4361del | ENSP00000513261.1:n.315+4358_315+4361del | |
| ENST00000697340.1:c.465-1345_465-1342del | ENSP00000513262.1:n.465-1345_465-1342del | |
| ENST00000697341.1:n.438-1345_438-1342del | ||
| ENST00000313735.11:c.468-1345_468-1342del MANE Select | ENSP00000327251.6:n.468-1345_468-1342del | |
| ENST00000646938.1:c.465-1345_465-1342del | ENSP00000494870.1:n.465-1345_465-1342del | |
| ENST00000313735.10:c.468-1345_468-1342del | ENSP00000327251.6:n.468-1345_468-1342del | |
| ENST00000621962.1:c.468-1345_468-1342del | ENSP00000482291.1:n.468-1345_468-1342del | |
| NM_000625.4:c.468-1345_468-1342del MANE Select | NP_000616.3:n.468-1345_468-1342del | |
| XM_011524859.1:c.468-1345_468-1342del | XP_011523161.1:n.468-1345_468-1342del | |
| XM_011524860.1:c.465-1345_465-1342del | XP_011523162.1:n.465-1345_465-1342del | |
| XM_011524861.1:c.468-1345_468-1342del | XP_011523163.1:n.468-1345_468-1342del | |
| XM_011524862.1:c.-199-1345_-199-1342del | XP_011523164.1:n.-199-1345_-199-1342del |