Linked Data
ClinVar Variation Id:
71118
dbSNP Id:
rs146650273
MyVariant Identifiers:
chr10:g.89720804_89720807del (hg19)
chr10:g.89720799_89720802del (hg19)
chr10:g.87961047_87961050del (hg38)
PubMed:
PMID:9288766
PMID:10400993
PMID:12415190
PMID:21194675
PMID:23335809
PMID:23470840
PMID:24102544
CIViC:
CA000646
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87961047_87961050del , CM000672.2:g.87961047_87961050del | GRCh38 |
| NC_000010.10:g.89720804_89720807del , CM000672.1:g.89720804_89720807del | GRCh37 |
| NC_000010.9:g.89710784_89710787del | NCBI36 |
| NG_007466.2:g.102609_102612del , LRG_311:g.102609_102612del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.1048_1051del | ENSP00000514759.2:p.Thr350Ter | |
| ENST00000710265.1:c.955_958del | ENSP00000518161.1:p.Thr319Ter | |
| ENST00000472832.3:c.955_958del | ENSP00000483066.2:p.Thr319Ter | |
| ENST00000688158.2:n.1690_1693del | ||
| ENST00000688922.2:c.*785_*788del | ENSP00000508742.2:n.*785_*788del | |
| ENST00000700021.1:c.910_913del | ENSP00000514757.1:p.Thr304Ter | |
| ENST00000700022.1:c.*294_*297del | ENSP00000514758.1:n.*294_*297del | |
| ENST00000700023.1:n.2113_2116del | ||
| ENST00000700024.1:n.2347_2350del | ||
| ENST00000700025.1:n.1724_1727del | ||
| ENST00000700026.1:n.592_595del | ||
| ENST00000706954.1:c.955_958del | ENSP00000516674.1:p.Thr319Ter | |
| ENST00000706955.1:c.*990_*993del | ENSP00000516675.1:n.*990_*993del | |
| ENST00000686459.1:c.*541_*544del | ENSP00000508909.1:n.*541_*544del | |
| ENST00000688158.1:c.*1066_*1069del | ENSP00000509254.1:n.*1066_*1069del | |
| ENST00000688308.1:c.955_958del | ENSP00000508752.1:p.Thr319Ter | |
| ENST00000688922.1:c.876_879del | ||
| ENST00000693560.1:c.1474_1477del | ENSP00000509861.1:p.Thr492Ter | |
| ENST00000371953.8:c.955_958del MANE Select | ENSP00000361021.3:p.Thr319Ter | |
| ENST00000371953.7:c.955_958del | ENSP00000361021.3:p.Thr319Ter | |
| ENST00000472832.2:c.382_385del | ENSP00000483066.1:p.Thr128Ter | |
| NM_000314.5:c.955_958del | NP_000305.3:p.Thr319Ter | |
| NM_000314.6:c.955_958del | NP_000305.3:p.Thr319Ter | |
| NM_001304717.2:c.1474_1477del | NP_001291646.2:p.Thr492Ter | |
| NM_001304718.1:c.364_367del | NP_001291647.1:p.Thr122Ter | |
| XM_006717926.2:c.910_913del | XP_006717989.1:p.Thr304Ter | |
| XM_011539981.1:c.955_958del | XP_011538283.1:p.Thr319Ter | |
| XM_011539982.1:c.859_862del | XP_011538284.1:p.Thr287Ter | |
| XR_945791.1:n.1525_1528del | ||
| NM_000314.7:c.955_958del | NP_000305.3:p.Thr319Ter | |
| NM_001304717.5:c.1474_1477del | NP_001291646.4:p.Thr492Ter | |
| NM_001304718.2:c.364_367del | NP_001291647.1:p.Thr122Ter | |
| NM_000314.8:c.955_958del MANE Select | NP_000305.3:p.Thr319Ter |