Linked Data
ClinVar Variation Id:
500495
dbSNP Id:
rs1284316063
gnomAD v2:
10-50732321-ATCTTCCTCC-A
gnomAD v4:
10-49524275-ATCTTCCTCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49524287_49524295del , CM000672.2:g.49524287_49524295del | GRCh38 |
| NC_000010.10:g.50732333_50732341del , CM000672.1:g.50732333_50732341del | GRCh37 |
| NC_000010.9:g.50402339_50402347del | NCBI36 |
| NG_009442.1:g.19818_19826del , LRG_465:g.19818_19826del | |
| NG_033155.1:g.4998_5006del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1146_1154del MANE Select | ENSP00000348089.5:p.Glu382_Glu384del | |
| ENST00000447839.7:c.1146_1154del MANE Plus Clinical | ENSP00000387966.2:p.Glu382_Glu384del | |
| ENST00000679596.1:c.*775_*783del | ENSP00000504862.1:n.*775_*783del | |
| ENST00000679811.1:n.1229_1237del | ||
| ENST00000680107.1:c.652+4133_652+4141del | ENSP00000505909.1:n.652+4133_652+4141del | |
| ENST00000680233.1:n.1239_1247del | ||
| ENST00000681632.1:n.1224_1232del | ||
| ENST00000681659.1:c.1146_1154del | ENSP00000505631.1:p.Glu382_Glu384del | |
| ENST00000355832.9:c.1146_1154del | ENSP00000348089.5:p.Glu382_Glu384del | |
| ENST00000447839.6:c.1146_1154del | ENSP00000387966.2:p.Glu382_Glu384del | |
| ENST00000515869.1:c.1146_1154del | ENSP00000423550.1:p.Glu382_Glu384del | |
| NM_000124.3:c.1146_1154del | NP_000115.1:p.Glu382_Glu384del | |
| NM_001277058.1:c.1146_1154del | NP_001263987.1:p.Glu382_Glu384del | |
| NM_001277059.1:c.1146_1154del | NP_001263988.1:p.Glu382_Glu384del | |
| NM_001346440.1:c.1146_1154del | NP_001333369.1:p.Glu382_Glu384del | |
| NM_000124.4:c.1146_1154del MANE Select | NP_000115.1:p.Glu382_Glu384del | |
| NM_001277058.2:c.1146_1154del MANE Plus Clinical | NP_001263987.1:p.Glu382_Glu384del | |
| NM_001277059.2:c.1146_1154del | NP_001263988.1:p.Glu382_Glu384del | |
| NM_001346440.2:c.1146_1154del | NP_001333369.1:p.Glu382_Glu384del |