Linked Data
ClinVar Variation Id:
625264
ClinVar RCV Id:
RCV000767292
dbSNP Id:
rs1559429813
CIViC:
CA658795181
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149881_10149883del , CM000665.2:g.10149881_10149883del | GRCh38 |
| NC_000003.11:g.10191565_10191567del , CM000665.1:g.10191565_10191567del | GRCh37 |
| NC_000003.10:g.10166565_10166567del | NCBI36 |
| NG_008212.3:g.13247_13249del , LRG_322:g.13247_13249del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*235_*237del | ENSP00000512434.1:n.*235_*237del | |
| ENST00000696143.1:c.694_696del | ENSP00000512435.1:n.694_696del | |
| ENST00000696153.1:c.669_671del | ENSP00000512444.1:p.Glu223del | |
| ENST00000256474.3:c.558_560del MANE Select | ENSP00000256474.3:p.Glu186del | |
| ENST00000256474.2:c.558_560del | ENSP00000256474.2:p.Glu186del | |
| ENST00000345392.2:c.435_437del | ENSP00000344757.2:p.Glu145del | |
| ENST00000477538.1:n.694_696del | ||
| NM_000551.3:c.558_560del , LRG_322t1:c.558_560del | NP_000542.1:p.Glu186del | |
| NM_198156.2:c.435_437del | NP_937799.1:p.Glu145del | |
| NM_001354723.1:c.*112_*114del | NP_001341652.1:n.*112_*114del | |
| NM_000551.4:c.558_560del MANE Select | NP_000542.1:p.Glu186del | |
| NM_001354723.2:c.*112_*114del | NP_001341652.1:n.*112_*114del | |
| NM_198156.3:c.435_437del | NP_937799.1:p.Glu145del |