Linked Data
dbSNP Id:
rs753959595
ExAC:
5:95734696 CTTG / C
gnomAD v2:
5-95734696-CTTG-C
gnomAD v4:
5-96398992-CTTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96398996_96398998del , CM000667.2:g.96398996_96398998del | GRCh38 |
| NC_000005.9:g.95734700_95734702del , CM000667.1:g.95734700_95734702del | GRCh37 |
| NC_000005.8:g.95760456_95760458del | NCBI36 |
| NG_021161.1:g.39287_39289del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.1472_1474del MANE Select | ENSP00000308024.2:p.Thr491del | |
| ENST00000311106.7:c.1472_1474del | ENSP00000308024.2:p.Thr491del | |
| ENST00000508626.5:c.1331_1333del | ENSP00000421600.1:p.Thr444del | |
| ENST00000513085.1:n.615_617del | ||
| NM_000439.4:c.1472_1474del | NP_000430.3:p.Thr491del | |
| NM_001177875.1:c.1331_1333del | NP_001171346.1:p.Thr444del | |
| NR_130776.1:n.354+19344_354+19346del | ||
| NM_000439.5:c.1472_1474del MANE Select | NP_000430.3:p.Thr491del | |
| NM_001177875.2:c.1331_1333del | NP_001171346.1:p.Thr444del |