Linked Data
ClinVar Variation Id:
375633
ClinVar RCV Id:
RCV000417091
dbSNP Id:
rs1057519594
PubMed:
PMID:25217958
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.44951356_44951357insT , CM000680.2:g.44951356_44951357insT | GRCh38 |
| NC_000018.9:g.42531321_42531322insT , CM000680.1:g.42531321_42531322insT | GRCh37 |
| NC_000018.8:g.40785319_40785320insT | NCBI36 |
| NG_027527.1:g.276184_276185insT | |
| NG_027527.2:g.276184_276185insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649279.2:c.2016_2017insT MANE Select | ENSP00000497406.1:p.Lys673Ter | |
| ENST00000677068.1:c.2016_2017insT | ENSP00000504398.1:p.Lys673Ter | |
| ENST00000677077.1:c.2016_2017insT | ENSP00000503656.1:p.Lys673Ter | |
| ENST00000677130.1:c.2016_2017insT | ENSP00000503094.1:p.Lys673Ter | |
| ENST00000677699.1:c.2016_2017insT | ENSP00000503964.1:p.Lys673Ter | |
| ENST00000678152.1:c.2016_2017insT | ENSP00000502995.1:p.Lys673Ter | |
| ENST00000282030.5:c.2016_2017insT | ENSP00000282030.5:p.Lys673Ter | |
| NM_015559.2:c.2016_2017insT | NP_056374.2:p.Lys673Ter | |
| XM_005258243.3:c.2016_2017insT | XP_005258300.1:p.Lys673Ter | |
| NM_015559.3:c.2016_2017insT MANE Select | NP_056374.2:p.Lys673Ter | |
| XM_024451149.1:c.2094_2095insT | XP_024306917.1:p.Lys699Ter | |
| XM_024451150.1:c.2094_2095insT | XP_024306918.1:p.Lys699Ter | |
| XM_024451151.1:c.2094_2095insT | XP_024306919.1:p.Lys699Ter | |
| XM_024451152.1:c.2094_2095insT | XP_024306920.1:p.Lys699Ter | |
| XM_024451153.1:c.2016_2017insT | XP_024306921.1:p.Lys673Ter | |
| XM_024451154.1:c.2016_2017insT | XP_024306922.1:p.Lys673Ter | |
| XM_024451155.1:c.2016_2017insT | XP_024306923.1:p.Lys673Ter | |
| XM_024451156.1:c.2094_2095insT | XP_024306924.1:p.Lys699Ter | |
| XM_024451157.1:c.1539_1540insT | XP_024306925.1:p.Lys514Ter | |
| XM_024451158.1:c.2094_2095insT | XP_024306926.1:p.Lys699Ter | |
| NM_001379141.1:c.2016_2017insT | NP_001366070.1:p.Lys673Ter | |
| NM_001379142.1:c.2016_2017insT | NP_001366071.1:p.Lys673Ter |