Linked Data
ClinVar Variation Id:
393464
ClinVar RCV Id:
RCV000445557
dbSNP Id:
rs1057524914
PubMed:
PMID:23708187
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244854456_244854457delinsTC , CM000663.2:g.244854456_244854457delinsTC | GRCh38 |
| NC_000001.10:g.245017758_245017759delinsTC , CM000663.1:g.245017758_245017759delinsTC | GRCh37 |
| NC_000001.9:g.243084381_243084382delinsTC | NCBI36 |
| NG_042184.1:g.15069_15070delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639628.2:c.1643_1644delinsGA | ENSP00000491340.1:p.Tyr548Ter | |
| ENST00000704074.1:c.1990_1991delinsGA | ||
| ENST00000283179.14:c.2228_2229delinsGA | ENSP00000283179.10:p.Tyr743Ter | |
| ENST00000366525.8:n.2084_2085delinsGA | ||
| ENST00000366527.4:n.292_293delinsGA | ||
| ENST00000440865.2:c.1802_1803delinsGA | ENSP00000410728.2:p.Tyr601Ter | |
| ENST00000444376.7:c.2414_2415delinsGA | ENSP00000393151.2:p.Tyr805Ter | |
| ENST00000468690.2:n.5006_5007delinsGA | ||
| ENST00000475997.6:c.411+516_411+517delinsGA | ENSP00000482621.2:n.411+516_411+517delinsGA | |
| ENST00000476241.2:n.4585_4586delinsGA | ||
| ENST00000638230.1:c.1534+516_1534+517delinsGA | ||
| ENST00000638475.1:c.2180_2181delinsGA | ENSP00000491305.1:p.Tyr727Ter | |
| ENST00000638716.1:c.1637_1638delinsGA | ENSP00000491601.1:p.Tyr546Ter | |
| ENST00000638952.1:n.4688_4689delinsGA | ||
| ENST00000639064.1:n.2374_2375delinsGA | ||
| ENST00000639628.1:c.1643_1644delinsGA | ENSP00000491340.1:p.Tyr548Ter | |
| ENST00000639824.1:c.975_976delinsGA | ||
| ENST00000639880.1:c.*1407_*1408delinsGA | ENSP00000490988.1:n.*1407_*1408delinsGA | |
| ENST00000640001.1:c.*471_*472delinsGA | ENSP00000491294.1:n.*471_*472delinsGA | |
| ENST00000640056.1:c.1794_1795delinsGA | ENSP00000492620.1:n.1794_1795delinsGA | |
| ENST00000640218.2:c.2471_2472delinsGA MANE Select | ENSP00000491215.1:p.Tyr824Ter | |
| ENST00000640264.1:n.246+516_246+517delinsGA | ||
| ENST00000640306.1:c.2367+516_2367+517delinsGA | ENSP00000491685.1:n.2367+516_2367+517delinsGA | |
| ENST00000649899.1:n.2638_2639delinsGA | ||
| ENST00000283179.13:c.2471_2472delinsGA | ENSP00000283179.9:p.Tyr824Ter | |
| ENST00000366525.7:n.2211_2212delinsGA | ||
| ENST00000444376.6:c.2414_2415delinsGA | ENSP00000393151.2:p.Tyr805Ter | |
| ENST00000475997.5:c.146+516_146+517delinsGA | ||
| ENST00000489705.2:c.47_48delinsGA | ||
| NM_004501.3:c.2414_2415delinsGA | NP_004492.2:p.Tyr805Ter | |
| NM_031844.2:c.2471_2472delinsGA | NP_114032.2:p.Tyr824Ter | |
| NM_031844.3:c.2471_2472delinsGA MANE Select | NP_114032.2:p.Tyr824Ter |