ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184143454_184143455delinsTG , CM000665.2:g.184143454_184143455delinsTG | GRCh38 |
| NC_000003.11:g.183861242_183861243delinsTG , CM000665.1:g.183861242_183861243delinsTG | GRCh37 |
| NC_000003.10:g.185343936_185343937delinsTG | NCBI36 |
| NG_015826.1:g.13433_13434delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.2080_2081delinsTG | ||
| ENST00000468748.7:n.2300_2301delinsTG | ||
| ENST00000484154.2:n.2287_2288delinsTG | ||
| ENST00000491008.6:n.2522_2523delinsTG | ||
| ENST00000492226.2:n.2324_2325delinsTG | ||
| ENST00000492773.6:c.1512_1513delinsTG | ||
| ENST00000647636.1:c.*607_*608delinsTG | ENSP00000497505.1:n.*607_*608delinsTG | |
| ENST00000647909.1:c.1782_1783delinsTG | ENSP00000498164.1:p.Ile595Val | |
| ENST00000648145.1:c.1530_1531delinsTG | ||
| ENST00000648189.1:c.1592_1593delinsTG | ||
| ENST00000648256.1:c.1730_1731delinsTG | ENSP00000497356.1:n.1730_1731delinsTG | |
| ENST00000648314.1:c.*1176_*1177delinsTG | ENSP00000496920.1:n.*1176_*1177delinsTG | |
| ENST00000648599.1:c.*1041_*1042delinsTG | ENSP00000497159.1:n.*1041_*1042delinsTG | |
| ENST00000648630.1:c.1936_1937delinsTG | ENSP00000497887.1:n.1936_1937delinsTG | |
| ENST00000648682.1:c.*897_*898delinsTG | ENSP00000498185.1:n.*897_*898delinsTG | |
| ENST00000648882.1:c.*1584_*1585delinsTG | ENSP00000497603.1:n.*1584_*1585delinsTG | |
| ENST00000648890.1:c.*181_*182delinsTG | ENSP00000497503.1:n.*181_*182delinsTG | |
| ENST00000648915.2:c.1758_1759delinsTG MANE Select | ENSP00000497160.1:p.Ile587Val | |
| ENST00000649545.1:c.1417_1418delinsTG | ||
| ENST00000649688.1:c.*1350_*1351delinsTG | ENSP00000497097.1:n.*1350_*1351delinsTG | |
| ENST00000649814.1:n.1823_1824delinsTG | ||
| ENST00000650270.1:c.1636_1637delinsTG | ||
| ENST00000273783.7:c.1758_1759delinsTG | ENSP00000273783.3:p.Ile587Val | |
| ENST00000444495.1:c.1758_1759delinsTG | ENSP00000409142.1:p.Ile587Val | |
| ENST00000465218.2:n.540_541delinsTG | ||
| ENST00000481054.5:n.2151_2152delinsTG | ||
| ENST00000484154.1:n.194_195delinsTG | ||
| ENST00000491144.5:n.2262_2263delinsTG | ||
| NM_003907.2:c.1758_1759delinsTG | NP_003898.2:p.Ile587Val | |
| XM_011513265.1:c.1008_1009delinsTG | XP_011511567.1:p.Ile337Val | |
| XM_011513266.1:c.921_922delinsTG | XP_011511568.1:p.Ile308Val | |
| XR_924208.1:n.2725_2726delinsTG | ||
| NM_003907.3:c.1758_1759delinsTG MANE Select | NP_003898.2:p.Ile587Val | |
| XM_011513266.3:c.921_922delinsTG | XP_011511568.1:p.Ile308Val | |
| XR_001740352.2:n.2132_2133delinsTG | ||
| XR_001740353.2:n.2148_2149delinsTG | ||
| XR_924208.2:n.2137_2138delinsTG |