ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154990458_154990460del , CM000663.2:g.154990458_154990460del | GRCh38 |
| NC_000001.10:g.154962934_154962936del , CM000663.1:g.154962934_154962936del | GRCh37 |
| NC_000001.9:g.153229558_153229560del | NCBI36 |
| NG_042310.1:g.12165_12167del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292180.8:c.1484_1486del MANE Select | ENSP00000292180.3:p.Ser495del | |
| ENST00000292180.7:c.1484_1486del | ENSP00000292180.3:p.Ser495del | |
| ENST00000295530.6:c.415+201_415+203del | ENSP00000295530.2:n.415+201_415+203del | |
| ENST00000315144.14:c.1193_1195del | ENSP00000317296.10:p.Ser398del | |
| ENST00000368428.1:c.107_109del | ENSP00000357413.1:p.Ser36del | |
| ENST00000368432.5:c.1193_1195del | ENSP00000357417.1:p.Ser398del | |
| ENST00000368433.5:c.*194_*196del | ENSP00000357418.1:n.*194_*196del | |
| ENST00000477609.5:n.165_167del | ||
| ENST00000489992.5:n.364+201_364+203del | ||
| NM_001184891.1:c.1193_1195del | NP_001171820.1:p.Ser398del | |
| NM_025207.4:c.1484_1486del | NP_079483.3:p.Ser495del | |
| NM_201398.2:c.1193_1195del | NP_958800.1:p.Ser398del | |
| XM_005245502.2:c.1193_1195del | XP_005245559.1:p.Ser398del | |
| XM_005245503.2:c.683_685del | XP_005245560.1:p.Ser228del | |
| XR_241098.3:n.1254_1256del | ||
| NM_025207.5:c.1484_1486del MANE Select | NP_079483.3:p.Ser495del | |
| NM_001184891.2:c.1193_1195del | NP_001171820.1:p.Ser398del | |
| NM_201398.3:c.1193_1195del | NP_958800.1:p.Ser398del |