Linked Data
ClinVar Variation Id:
51115
ClinVar RCV Id:
RCV000576992
dbSNP Id:
rs397507585
PubMed:
PMID:21156238
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32332870_32332871insT , CM000675.2:g.32332870_32332871insT | GRCh38 |
| NC_000013.10:g.32907007_32907008insT , CM000675.1:g.32907007_32907008insT | GRCh37 |
| NC_000013.9:g.31805007_31805008insT | NCBI36 |
| NG_012772.3:g.22391_22392insT , LRG_293:g.22391_22392insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.1392_1393insT | ENSP00000434898.2:p.Val465CysfsTer3 | |
| ENST00000528762.2:c.1392_1393insT | ENSP00000433168.2:p.Val465CysfsTer3 | |
| ENST00000530893.7:c.1023_1024insT | ENSP00000499438.2:p.Val342CysfsTer3 | |
| ENST00000665585.2:c.1392_1393insT | ENSP00000499570.2:p.Val465CysfsTer3 | |
| ENST00000666593.2:c.1392_1393insT | ENSP00000499256.2:p.Val465CysfsTer3 | |
| ENST00000700202.2:c.1392_1393insT | ENSP00000514856.2:p.Val465CysfsTer3 | |
| ENST00000700201.1:c.*1171_*1172insT | ENSP00000514855.1:n.*1171_*1172insT | |
| ENST00000380152.8:c.1392_1393insT MANE Select | ENSP00000369497.3:p.Val465CysfsTer3 | |
| ENST00000544455.6:c.1392_1393insT | ENSP00000439902.1:p.Val465CysfsTer3 | |
| ENST00000614259.2:c.1392_1393insT | ENSP00000506251.1:p.Val465CysfsTer3 | |
| ENST00000680887.1:c.1392_1393insT | ENSP00000505508.1:p.Val465CysfsTer3 | |
| ENST00000380152.7:c.1392_1393insT | ENSP00000369497.3:p.Val465CysfsTer3 | |
| ENST00000530893.6:n.1590_1591insT | ||
| ENST00000544455.5:c.1392_1393insT | ENSP00000439902.1:p.Val465CysfsTer3 | |
| ENST00000614259.1:n.1392_1393insT | ||
| NM_000059.3:c.1392_1393insT , LRG_293t1:c.1392_1393insT | NP_000050.2:p.Val465CysfsTer3 | |
| XM_011535203.1:c.1392_1393insT | XP_011533505.1:p.Val465CysfsTer3 | |
| XM_011535204.1:c.1392_1393insT | XP_011533506.1:p.Val465CysfsTer3 | |
| XM_011535205.1:c.1392_1393insT | XP_011533507.1:p.Val465CysfsTer3 | |
| NM_000059.4:c.1392_1393insT MANE Select | NP_000050.3:p.Val465CysfsTer3 |