Linked Data
ClinVar Variation Id:
376284
ClinVar RCV Id:
RCV000419349
dbSNP Id:
rs121913372
COSMIC:
COSM1135
PubMed:
PMID:25157968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140753321_140753322delinsAA , CM000669.2:g.140753321_140753322delinsAA | GRCh38 |
| NC_000007.13:g.140453121_140453122delinsAA , CM000669.1:g.140453121_140453122delinsAA | GRCh37 |
| NC_000007.12:g.140099590_140099591delinsAA | NCBI36 |
| NG_007873.3:g.176443_176444delinsTT , LRG_299:g.176443_176444delinsTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1813_1814delinsTT MANE Select | ENSP00000493543.1:p.Ser605Phe | |
| ENST00000288602.11:c.1933_1934delinsTT | ENSP00000288602.7:p.Ser645Phe | |
| ENST00000479537.6:c.483_484delinsTT | ||
| ENST00000496384.7:c.1813_1814delinsTT | ENSP00000419060.2:p.Ser605Phe | |
| ENST00000497784.2:c.*1263_*1264delinsTT | ENSP00000420119.2:n.*1263_*1264delinsTT | |
| ENST00000642228.1:c.*891_*892delinsTT | ENSP00000493678.1:n.*891_*892delinsTT | |
| ENST00000642875.1:n.1259-3904_1259-3903delinsTT | ||
| ENST00000644120.1:n.2203_2204delinsTT | ||
| ENST00000644650.1:c.909_910delinsTT | ||
| ENST00000644905.1:n.2695_2696delinsTT | ||
| ENST00000644969.2:c.1933_1934delinsTT MANE Plus Clinical | ENSP00000496776.1:p.Ser645Phe | |
| ENST00000646730.1:c.*389_*390delinsTT | ENSP00000494784.1:n.*389_*390delinsTT | |
| ENST00000646891.1:c.1813_1814delinsTT | ENSP00000493543.1:p.Ser605Phe | |
| ENST00000647434.1:c.738-3904_738-3903delinsTT | ENSP00000495132.1:n.738-3904_738-3903deli... | |
| ENST00000288602.10:c.1813_1814delinsTT | ENSP00000288602.6:p.Ser605Phe | |
| ENST00000479537.5:c.97_98delinsTT | ENSP00000418033.1:p.Ser33Phe | |
| ENST00000496384.6:c.636_637delinsTT | ||
| ENST00000497784.1:c.1848_1849delinsTT | ENSP00000420119.1:n.1848_1849delinsTT | |
| NM_004333.4:c.1813_1814delinsTT , LRG_299t1:c.1813_1814delinsTT | NP_004324.2:p.Ser605Phe | |
| XM_005250045.1:c.1813_1814delinsTT | XP_005250102.1:p.Ser605Phe | |
| XM_005250046.1:c.1813_1814delinsTT | XP_005250103.1:p.Ser605Phe | |
| XM_011516529.1:c.1813_1814delinsTT | XP_011514831.1:p.Ser605Phe | |
| XM_011516530.1:c.1695-3904_1695-3903delinsTT | XP_011514832.1:n.1695-3904_1695-3903delin... | |
| XR_242190.1:n.1821_1822delinsTT | ||
| XR_927520.1:n.1821_1822delinsTT | ||
| XR_927521.1:n.1821_1822delinsTT | ||
| XR_927522.1:n.1703-3904_1703-3903delinsTT | ||
| XR_927523.1:n.1703-3904_1703-3903delinsTT | ||
| NM_001354609.1:c.1813_1814delinsTT | NP_001341538.1:p.Ser605Phe | |
| NM_004333.5:c.1813_1814delinsTT | NP_004324.2:p.Ser605Phe | |
| NR_148928.1:n.2911_2912delinsTT | ||
| XM_017012558.1:c.1933_1934delinsTT | XP_016868047.1:p.Ser645Phe | |
| XM_017012559.1:c.1933_1934delinsTT | XP_016868048.1:p.Ser645Phe | |
| XR_001744857.1:n.1941_1942delinsTT | ||
| XR_001744858.1:n.1823-3904_1823-3903delinsTT | ||
| NM_001354609.2:c.1813_1814delinsTT | NP_001341538.1:p.Ser605Phe | |
| NM_001374244.1:c.1933_1934delinsTT | NP_001361173.1:p.Ser645Phe | |
| NM_001374258.1:c.1933_1934delinsTT MANE Plus Clinical | NP_001361187.1:p.Ser645Phe | |
| NM_004333.6:c.1813_1814delinsTT MANE Select | NP_004324.2:p.Ser605Phe | |
| NM_001378467.1:c.1822_1823delinsTT | NP_001365396.1:p.Ser608Phe | |
| NM_001378468.1:c.1813_1814delinsTT | NP_001365397.1:p.Ser605Phe | |
| NM_001378469.1:c.1747_1748delinsTT | NP_001365398.1:p.Ser583Phe | |
| NM_001378470.1:c.1711_1712delinsTT | NP_001365399.1:p.Ser571Phe | |
| NM_001378471.1:c.1702_1703delinsTT | NP_001365400.1:p.Ser568Phe | |
| NM_001378472.1:c.1657_1658delinsTT | NP_001365401.1:p.Ser553Phe | |
| NM_001378473.1:c.1657_1658delinsTT | NP_001365402.1:p.Ser553Phe | |
| NM_001378474.1:c.1813_1814delinsTT | NP_001365403.1:p.Ser605Phe | |
| NM_001378475.1:c.1549_1550delinsTT | NP_001365404.1:p.Ser517Phe |