Linked Data
dbSNP Id:
rs148013037
gnomAD v2:
17-26099176-TC-T
gnomAD v3:
17-27772150-TC-T
gnomAD v4:
17-27772150-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27772153del , CM000679.2:g.27772153del | GRCh38 |
| NC_000017.10:g.26099179del , CM000679.1:g.26099179del | GRCh37 |
| NC_000017.9:g.23123306del | NCBI36 |
| NG_011470.1:g.33379del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697337.1:c.*1307del | ENSP00000513259.1:n.*1307del | |
| ENST00000697338.1:c.1552+157del | ENSP00000513260.1:n.1552+157del | |
| ENST00000697339.1:c.738+157del | ENSP00000513261.1:n.738+157del | |
| ENST00000697340.1:c.*421+157del | ENSP00000513262.1:n.*421+157del | |
| ENST00000697341.1:n.1674+157del | ||
| ENST00000313735.11:c.1704+157del MANE Select | ENSP00000327251.6:n.1704+157del | |
| ENST00000646938.1:c.1701+157del | ENSP00000494870.1:n.1701+157del | |
| ENST00000313735.10:c.1704+157del | ENSP00000327251.6:n.1704+157del | |
| ENST00000621962.1:c.1587+157del | ENSP00000482291.1:n.1587+157del | |
| NM_000625.4:c.1704+157del MANE Select | NP_000616.3:n.1704+157del | |
| XM_011524859.1:c.1704+157del | XP_011523161.1:n.1704+157del | |
| XM_011524860.1:c.1701+157del | XP_011523162.1:n.1701+157del | |
| XM_011524861.1:c.1704+157del | XP_011523163.1:n.1704+157del | |
| XM_011524862.1:c.1038+157del | XP_011523164.1:n.1038+157del |