Linked Data
ClinVar Variation Id:
21722
ClinVar RCV Id:
RCV000020925
dbSNP Id:
rs193302857
PubMed:
PMID:20301784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362620_1362621insT , CM000678.2:g.1362620_1362621insT | GRCh38 |
| NC_000016.9:g.1412621_1412622insT , CM000678.1:g.1412621_1412622insT | GRCh37 |
| NC_000016.8:g.1352622_1352623insT | NCBI36 |
| NG_016985.1:g.15722_15723insT | |
| NG_033129.1:g.57084_57085insA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527168.6:n.718_719insT | ||
| ENST00000529110.2:c.703_704insT | ENSP00000435349.2:p.Lys235IlefsTer8 | |
| ENST00000529957.6:n.677_678insT | ||
| ENST00000683366.1:c.*351_*352insT | ENSP00000507283.1:n.*351_*352insT | |
| ENST00000683887.1:c.667_668insT | ENSP00000506886.1:p.Lys223IlefsTer8 | |
| ENST00000684100.1:n.613_614insT | ||
| ENST00000684126.1:n.753_754insT | ||
| ENST00000684688.1:n.1244_1245insT | ||
| ENST00000204679.9:c.619_620insT MANE Select | ENSP00000204679.4:p.Lys207IlefsTer8 | |
| ENST00000204679.8:c.619_620insT | ENSP00000204679.4:p.Lys207IlefsTer8 | |
| ENST00000527076.1:n.1842_1843insT | ||
| ENST00000527168.5:n.786_787insT | ||
| ENST00000529957.5:n.718_719insT | ||
| NM_032520.4:c.619_620insT | NP_115909.1:p.Lys207IlefsTer8 | |
| XM_017023782.1:c.667_668insT | XP_016879271.1:p.Lys223IlefsTer8 | |
| XM_017023783.1:c.259_260insT | XP_016879272.1:p.Lys87IlefsTer8 | |
| NM_032520.5:c.619_620insT MANE Select | NP_115909.1:p.Lys207IlefsTer8 |