Linked Data
ClinVar Variation Id:
126427
ClinVar RCV Id:
RCV000114367
dbSNP Id:
rs587777267
PubMed:
PMID:24597867
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100188863del , CM000669.2:g.100188863del | GRCh38 |
| NC_000007.13:g.99786486del , CM000669.1:g.99786486del | GRCh37 |
| NC_000007.12:g.99624422del | NCBI36 |
| NG_034114.1:g.16140del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000412190.6:c.337-582del (STAG3) | ENSP00000395039.2:n.337-582del | |
| ENST00000615138.5:c.562del (STAG3) MANE Select | ENSP00000477973.1:p.Gln188ArgfsTer8 | |
| ENST00000620100.5:c.388del (STAG3) | ENSP00000484098.1:p.Gln130ArgfsTer8 | |
| ENST00000317296.9:c.562del (STAG3) | ENSP00000319318.5:p.Gln188ArgfsTer8 | |
| ENST00000394018.6:c.388del (STAG3) | ENSP00000377586.2:p.Gln130ArgfsTer8 | |
| ENST00000426455.5:c.562del (STAG3) | ENSP00000400359.1:p.Gln188ArgfsTer8 | |
| ENST00000439782.1:c.388del (STAG3) | ENSP00000397067.1:p.Gln130ArgfsTer8 | |
| ENST00000459699.1:n.384-582del (STAG3) | ||
| ENST00000496157.5:n.979del (STAG3) | ||
| ENST00000615138.4:c.562del (STAG3) | ENSP00000477973.1:p.Gln188ArgfsTer8 | |
| ENST00000620100.4:c.388del (STAG3) | ENSP00000484098.1:p.Gln130ArgfsTer8 | |
| NM_001282716.1:c.562del (STAG3) | NP_001269645.1:p.Gln188ArgfsTer8 | |
| NM_001282717.1:c.562del (STAG3) | NP_001269646.1:p.Gln188ArgfsTer8 | |
| NM_001282718.1:c.388del (STAG3) | NP_001269647.1:p.Gln130ArgfsTer8 | |
| NM_012447.3:c.562del (STAG3) | NP_036579.2:p.Gln188ArgfsTer8 | |
| XM_005250116.1:c.562del (STAG3) | XP_005250173.1:p.Gln188ArgfsTer8 | |
| XM_011515742.1:c.562del (STAG3) | XP_011514044.1:p.Gln188ArgfsTer8 | |
| XM_011515743.1:c.562del (STAG3) | XP_011514045.1:p.Gln188ArgfsTer8 | |
| XM_011515744.1:c.434-582del (STAG3) | XP_011514046.1:n.434-582del | |
| XM_011515745.1:c.-53+6024del (STAG3) | XP_011514047.1:n.-53+6024del | |
| XM_017011683.2:c.562del (STAG3) | XP_016867172.1:p.Gln188ArgfsTer8 | |
| XM_017011684.1:c.562del (STAG3) | XP_016867173.1:p.Gln188ArgfsTer8 | |
| XM_017011685.1:c.562del (STAG3) | XP_016867174.1:p.Gln188ArgfsTer8 | |
| XM_017011686.2:c.562del (STAG3) | XP_016867175.1:p.Gln188ArgfsTer8 | |
| XM_017011687.1:c.388del (STAG3) | XP_016867176.1:p.Gln130ArgfsTer8 | |
| XM_017012156.1:c.536-473del (CASTOR3P) | XP_016867645.1:n.536-473del | |
| NM_001282717.2:c.562del (STAG3) MANE Select | NP_001269646.1:p.Gln188ArgfsTer8 | |
| NM_001282718.2:c.388del (STAG3) | NP_001269647.1:p.Gln130ArgfsTer8 | |
| NM_001375438.1:c.562del (STAG3) | NP_001362367.1:p.Gln188ArgfsTer8 | |
| NM_012447.4:c.562del (STAG3) | NP_036579.2:p.Gln188ArgfsTer8 |