Linked Data
ClinVar Variation Id:
1217982
dbSNP Id:
rs779647632
ExAC:
16:731504 CGAA / C
gnomAD v2:
16-731504-CGAA-C
gnomAD v4:
16-681504-CGAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.681512_681514del , CM000678.2:g.681512_681514del | GRCh38 |
| NC_000016.9:g.731512_731514del , CM000678.1:g.731512_731514del | GRCh37 |
| NC_000016.8:g.671513_671515del | NCBI36 |
| NG_034141.1:g.6402_6404del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219548.9:c.433_435del (STUB1) MANE Select | ENSP00000219548.4:p.Lys145del | |
| ENST00000219548.8:c.433_435del (STUB1) | ENSP00000219548.4:p.Lys145del | |
| ENST00000563505.5:n.529_531del (STUB1) | ||
| ENST00000564316.1:c.32_34del (STUB1) | ||
| ENST00000564370.5:c.217_219del (STUB1) | ENSP00000456875.1:p.Lys73del | |
| ENST00000565677.5:c.217_219del (STUB1) | ENSP00000457228.1:p.Lys73del | |
| ENST00000566181.2:n.202_204del (STUB1) | ||
| ENST00000566408.5:c.150_152del (STUB1) | ||
| ENST00000567173.5:c.376_378del (STUB1) | ENSP00000456591.1:p.Lys126del | |
| ENST00000569248.5:n.1007_1009del (STUB1) | ||
| ENST00000620831.4:c.-50+38209_-50+38211del (MSLN) | ENSP00000482893.1:n.-50+38209_-50+38211del | |
| NM_001293197.1:c.217_219del (STUB1) | NP_001280126.1:p.Lys73del | |
| NM_005861.3:c.433_435del (STUB1) | NP_005852.2:p.Lys145del | |
| NM_005861.4:c.433_435del (STUB1) MANE Select | NP_005852.2:p.Lys145del | |
| NM_001293197.2:c.217_219del (STUB1) | NP_001280126.1:p.Lys73del |