ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18071302_18071303delinsTC , CM000670.2:g.18071302_18071303delinsTC | GRCh38 |
| NC_000008.10:g.17928811_17928812delinsTC , CM000670.1:g.17928811_17928812delinsTC | GRCh37 |
| NC_000008.9:g.17973091_17973092delinsTC | NCBI36 |
| NG_008985.1:g.18696_18697delinsGA | |
| NG_008985.2:g.18696_18697delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381733.9:c.261_262delinsGA | ENSP00000371152.4:p.Val88Met | |
| ENST00000518087.7:c.*49_*50delinsGA | ENSP00000490753.1:n.*49_*50delinsGA | |
| ENST00000519545.6:n.230_231delinsGA | ||
| ENST00000520781.6:c.213_214delinsGA | ENSP00000427751.1:p.Val72Met | |
| ENST00000523593.6:c.*56_*57delinsGA | ENSP00000490700.1:n.*56_*57delinsGA | |
| ENST00000635769.1:c.234_235delinsGA | ENSP00000490485.1:p.Val79Met | |
| ENST00000635944.1:c.*49_*50delinsGA | ENSP00000490195.1:n.*49_*50delinsGA | |
| ENST00000635998.1:c.213_214delinsGA | ENSP00000490506.1:p.Val72Met | |
| ENST00000636009.1:c.145_146delinsGA | ENSP00000489988.1:n.145_146delinsGA | |
| ENST00000636033.1:c.*49_*50delinsGA | ENSP00000489617.1:n.*49_*50delinsGA | |
| ENST00000636050.1:c.*56_*57delinsGA | ENSP00000490562.1:n.*56_*57delinsGA | |
| ENST00000636128.1:c.213_214delinsGA | ENSP00000489789.1:p.Val72Met | |
| ENST00000636160.1:c.*105_*106delinsGA | ENSP00000489651.1:n.*105_*106delinsGA | |
| ENST00000636171.1:c.213_214delinsGA | ENSP00000489761.1:p.Val72Met | |
| ENST00000636269.1:c.18_19delinsGA | ENSP00000490738.1:p.Val7Met | |
| ENST00000636299.1:c.174-1431_174-1430delinsGA | ENSP00000490202.1:n.174-1431_174-1430delinsGA | |
| ENST00000636435.1:n.297_298delinsGA | ||
| ENST00000636455.1:c.261_262delinsGA | ENSP00000490502.1:p.Val88Met | |
| ENST00000636494.1:c.126-1425_126-1424delinsGA | ENSP00000490388.1:n.126-1425_126-1424delinsGA | |
| ENST00000636537.1:c.261_262delinsGA | ENSP00000489914.1:p.Val88Met | |
| ENST00000636577.1:c.213_214delinsGA | ENSP00000490027.1:p.Val72Met | |
| ENST00000636691.1:c.18_19delinsGA | ENSP00000490725.1:p.Val7Met | |
| ENST00000636701.1:c.126-4005_126-4004delinsGA | ENSP00000489800.1:n.126-4005_126-4004delinsGA | |
| ENST00000636715.1:c.174-1425_174-1424delinsGA | ENSP00000490876.1:n.174-1425_174-1424delinsGA | |
| ENST00000636815.1:c.134-1425_134-1424delinsGA | ||
| ENST00000636823.1:c.18_19delinsGA | ENSP00000490798.1:p.Val7Met | |
| ENST00000636828.1:n.389_390delinsGA | ||
| ENST00000636920.1:c.*49_*50delinsGA | ENSP00000490437.1:n.*49_*50delinsGA | |
| ENST00000636997.1:c.213_214delinsGA | ENSP00000490093.1:p.Val72Met | |
| ENST00000637013.1:c.*425_*426delinsGA | ENSP00000490596.1:n.*425_*426delinsGA | |
| ENST00000637095.1:c.185+28_185+29delinsGA | ENSP00000490415.1:n.185+28_185+29delinsGA | |
| ENST00000637202.1:c.126-1425_126-1424delinsGA | ENSP00000490129.1:n.126-1425_126-1424delinsGA | |
| ENST00000637244.1:c.*731_*732delinsGA | ENSP00000490188.1:n.*731_*732delinsGA | |
| ENST00000637429.1:c.*425_*426delinsGA | ENSP00000490522.1:n.*425_*426delinsGA | |
| ENST00000637484.1:c.*250_*251delinsGA | ENSP00000490837.1:n.*250_*251delinsGA | |
| ENST00000637528.1:c.213_214delinsGA | ENSP00000490801.1:p.Val72Met | |
| ENST00000637561.1:c.213_214delinsGA | ENSP00000490536.1:p.Val72Met | |
| ENST00000637603.1:c.213_214delinsGA | ENSP00000489979.1:p.Val72Met | |
| ENST00000637609.1:n.246_247delinsGA | ||
| ENST00000637636.1:c.213_214delinsGA | ENSP00000490112.1:p.Val72Met | |
| ENST00000637638.1:c.213_214delinsGA | ENSP00000490774.1:p.Val72Met | |
| ENST00000637718.1:c.18_19delinsGA | ENSP00000490133.1:p.Val7Met | |
| ENST00000637790.2:c.213_214delinsGA MANE Select | ENSP00000490272.1:p.Val72Met | |
| ENST00000637792.1:c.261_262delinsGA | ENSP00000490423.1:p.Val88Met | |
| ENST00000637805.1:c.*49_*50delinsGA | ENSP00000489884.1:n.*49_*50delinsGA | |
| ENST00000637872.1:c.18_19delinsGA | ENSP00000490432.1:p.Val7Met | |
| ENST00000637898.1:n.243_244delinsGA | ||
| ENST00000637922.1:c.18_19delinsGA | ENSP00000490071.1:p.Val7Met | |
| ENST00000637991.1:c.261_262delinsGA | ENSP00000489901.1:p.Val88Met | |
| ENST00000638069.1:n.269_270delinsGA | ||
| ENST00000262097.10:c.213_214delinsGA | ENSP00000262097.6:p.Val72Met | |
| ENST00000314146.10:c.282_283delinsGA | ENSP00000326970.10:p.Val95Met | |
| ENST00000381733.8:c.261_262delinsGA | ENSP00000371152.4:p.Val88Met | |
| ENST00000518087.6:n.261_262delinsGA | ||
| ENST00000519468.5:n.219_220delinsGA | ||
| ENST00000519545.5:n.227_228delinsGA | ||
| ENST00000520781.5:c.213_214delinsGA | ENSP00000427751.1:p.Val72Met | |
| ENST00000523593.5:n.157-4005_157-4004delinsGA | ||
| NM_001127505.1:c.282_283delinsGA | NP_001120977.1:p.Val95Met | |
| NM_001127505.2:c.282_283delinsGA | NP_001120977.1:p.Val95Met | |
| NM_004315.4:c.261_262delinsGA | NP_004306.3:p.Val88Met | |
| NM_004315.5:c.261_262delinsGA | NP_004306.3:p.Val88Met | |
| NM_177924.3:c.213_214delinsGA | NP_808592.2:p.Val72Met | |
| NM_177924.4:c.213_214delinsGA | NP_808592.2:p.Val72Met | |
| XM_005273504.2:c.147_148delinsGA | XP_005273561.1:p.Val50Met | |
| NM_001363743.1:c.18_19delinsGA | NP_001350672.1:p.Val7Met | |
| XM_005273504.3:c.147_148delinsGA | XP_005273561.1:p.Val50Met | |
| NM_177924.5:c.213_214delinsGA MANE Select | NP_808592.2:p.Val72Met | |
| NM_001127505.3:c.282_283delinsGA | NP_001120977.1:p.Val95Met | |
| NM_001363743.2:c.18_19delinsGA | NP_001350672.1:p.Val7Met | |
| NM_004315.6:c.261_262delinsGA | NP_004306.3:p.Val88Met |