Linked Data
dbSNP Id:
rs746473186
ExAC:
4:155526080 CCTT / C
gnomAD v2:
4-155526080-CCTT-C
gnomAD v4:
4-154604928-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154604931_154604933del , CM000666.2:g.154604931_154604933del | GRCh38 |
| NC_000004.11:g.155526083_155526085del , CM000666.1:g.155526083_155526085del | GRCh37 |
| NC_000004.10:g.155745533_155745535del | NCBI36 |
| NG_008834.1:g.12820_12822del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336098.8:c.1265_1267del MANE Select | ENSP00000336829.3:p.Glu422del | |
| ENST00000336098.7:c.1265_1267del | ENSP00000336829.3:p.Glu422del | |
| ENST00000404648.7:c.1265_1267del | ENSP00000384860.3:p.Glu422del | |
| ENST00000405164.5:c.1289_1291del | ENSP00000384101.1:p.Glu430del | |
| ENST00000407946.5:c.1289_1291del | ENSP00000384552.1:p.Glu430del | |
| ENST00000465913.1:n.813_815del | ||
| ENST00000492082.5:n.1807_1809del | ||
| NM_000509.4:c.1265_1267del | NP_000500.2:p.Glu422del | |
| NM_000509.5:c.1265_1267del | NP_000500.2:p.Glu422del | |
| NM_021870.2:c.1265_1267del | NP_068656.2:p.Glu422del | |
| NM_021870.3:c.1265_1267del MANE Select | NP_068656.2:p.Glu422del | |
| NM_000509.6:c.1265_1267del | NP_000500.2:p.Glu422del |