Linked Data
ClinVar Variation Id:
805801
ClinVar RCV Id:
RCV000993596
dbSNP Id:
rs1592991196
ERepo:
CA16020716/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917087_102917088insCT , CM000674.2:g.102917087_102917088insCT | GRCh38 |
| NC_000012.11:g.103310865_103310866insCT , CM000674.1:g.103310865_103310866insCT | GRCh37 |
| NC_000012.10:g.101834995_101834996insCT | NCBI36 |
| NG_008690.1:g.5515_5516insAG | |
| NG_008690.2:g.46323_46324insAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.43_44insAG MANE Select | ENSP00000448059.1:p.Leu15GlnfsTer24 | |
| ENST00000307000.7:c.-105_-104insAG | ENSP00000303500.2:n.-105_-104insAG | |
| ENST00000546844.1:c.43_44insAG | ENSP00000446658.1:p.Leu15GlnfsTer24 | |
| ENST00000547319.1:n.354_355insAG | ||
| ENST00000549111.5:n.139_140insAG | ||
| ENST00000550978.6:c.27_28insAG | ||
| ENST00000551337.5:c.43_44insAG | ENSP00000447620.1:p.Leu15GlnfsTer24 | |
| ENST00000551988.5:n.132_133insAG | ||
| ENST00000553106.5:c.43_44insAG | ENSP00000448059.1:p.Leu15GlnfsTer24 | |
| ENST00000635500.1:n.29-4190_29-4189insAG | ||
| NM_000277.1:c.43_44insAG | NP_000268.1:p.Leu15GlnfsTer24 | |
| XM_011538422.1:c.43_44insAG | XP_011536724.1:p.Leu15GlnfsTer24 | |
| NM_000277.2:c.43_44insAG | NP_000268.1:p.Leu15GlnfsTer24 | |
| NM_001354304.1:c.43_44insAG | NP_001341233.1:p.Leu15GlnfsTer24 | |
| XM_017019370.2:c.43_44insAG | XP_016874859.1:p.Leu15GlnfsTer24 | |
| NM_000277.3:c.43_44insAG MANE Select | NP_000268.1:p.Leu15GlnfsTer24 | |
| NM_001354304.2:c.43_44insAG | NP_001341233.1:p.Leu15GlnfsTer24 |