Linked Data
ClinVar Variation Id:
805812
ClinVar RCV Id:
RCV000993629
dbSNP Id:
rs1592978992
ERepo:
CA16020737/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894904del , CM000674.2:g.102894904del | GRCh38 |
| NC_000012.11:g.103288682del , CM000674.1:g.103288682del | GRCh37 |
| NC_000012.10:g.101812812del | NCBI36 |
| NG_008690.1:g.27700del | |
| NG_008690.2:g.68508del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.184del MANE Select | ENSP00000448059.1:p.Leu62Ter | |
| ENST00000307000.7:c.169del | ENSP00000303500.2:p.Leu57Ter | |
| ENST00000546844.1:c.184del | ENSP00000446658.1:p.Leu62Ter | |
| ENST00000548677.2:n.271del | ||
| ENST00000548928.1:n.106del | ||
| ENST00000549111.5:n.280del | ||
| ENST00000550978.6:c.168del | ||
| ENST00000551337.5:c.184del | ENSP00000447620.1:p.Leu62Ter | |
| ENST00000551988.5:n.273del | ||
| ENST00000553106.5:c.184del | ENSP00000448059.1:p.Leu62Ter | |
| ENST00000635500.1:n.152del | ||
| NM_000277.1:c.184del | NP_000268.1:p.Leu62Ter | |
| XM_011538422.1:c.184del | XP_011536724.1:p.Leu62Ter | |
| NM_000277.2:c.184del | NP_000268.1:p.Leu62Ter | |
| NM_001354304.1:c.184del | NP_001341233.1:p.Leu62Ter | |
| XM_017019370.2:c.184del | XP_016874859.1:p.Leu62Ter | |
| NM_000277.3:c.184del MANE Select | NP_000268.1:p.Leu62Ter | |
| NM_001354304.2:c.184del | NP_001341233.1:p.Leu62Ter |