Linked Data
ClinVar Variation Id:
252322
ClinVar RCV Id:
RCV000237435
dbSNP Id:
rs879255198
MyVariant Identifiers:
chr19:g.11240198_11240202delinsGGGT (hg19)
chr19:g.11129522_11129526delinsGGGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11129522_11129526delinsGGGT , CM000681.2:g.11129522_11129526delinsGGGT | GRCh38 |
| NC_000019.9:g.11240198_11240202delinsGGGT , CM000681.1:g.11240198_11240202delinsGGGT | GRCh37 |
| NC_000019.8:g.11101198_11101202delinsGGGT | NCBI36 |
| NG_009060.1:g.45142_45146delinsGGGT , LRG_274:g.45142_45146delinsGGGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2657_2661delinsGGGT | ENSP00000252444.6:p.Val886GlyfsTer? | |
| ENST00000559340.2:c.*468_*472delinsGGGT | ENSP00000453696.2:n.*468_*472delinsGGGT | |
| ENST00000560467.2:c.2279_2283delinsGGGT | ENSP00000453513.2:p.Val760GlyfsTer? | |
| ENST00000558518.6:c.2399_2403delinsGGGT MANE Select | ENSP00000454071.1:p.Val800GlyfsTer? | |
| ENST00000252444.9:c.2653_2657delinsGGGT | ||
| ENST00000455727.6:c.1895_1899delinsGGGT | ENSP00000397829.2:p.Val632GlyfsTer? | |
| ENST00000535915.5:c.2276_2280delinsGGGT | ENSP00000440520.1:p.Val759GlyfsTer? | |
| ENST00000545707.5:c.1865_1869delinsGGGT | ENSP00000437639.1:p.Val622GlyfsTer? | |
| ENST00000557933.5:c.2461_2465delinsGGGT | ENSP00000453557.1:p.Ser821GlyfsTer16 | |
| ENST00000558013.5:c.2399_2403delinsGGGT | ENSP00000453346.1:p.Val800GlyfsTer? | |
| ENST00000558518.5:c.2399_2403delinsGGGT | ENSP00000454071.1:p.Val800GlyfsTer? | |
| ENST00000560628.1:n.108+1868_108+1872delinsGGGT | ||
| NM_000527.4:c.2399_2403delinsGGGT , LRG_274t1:c.2399_2403delinsGGGT | NP_000518.1:p.Val800GlyfsTer? | |
| NM_001195798.1:c.2399_2403delinsGGGT | NP_001182727.1:p.Val800GlyfsTer? | |
| NM_001195799.1:c.2276_2280delinsGGGT | NP_001182728.1:p.Val759GlyfsTer? | |
| NM_001195800.1:c.1895_1899delinsGGGT | NP_001182729.1:p.Val632GlyfsTer? | |
| NM_001195803.1:c.1865_1869delinsGGGT | NP_001182732.1:p.Val622GlyfsTer? | |
| XM_011528010.1:c.2321_2325delinsGGGT | XP_011526312.1:p.Val774GlyfsTer? | |
| XM_011528011.1:c.2018_2022delinsGGGT | XP_011526313.1:p.Val673GlyfsTer? | |
| XR_244074.2:n.2409_2413delinsGGGT | ||
| XM_011528010.2:c.2321_2325delinsGGGT | XP_011526312.1:p.Val774GlyfsTer? | |
| XR_001753685.2:n.2733_2737delinsGGGT | ||
| XR_001753686.2:n.2376_2380delinsGGGT | ||
| NM_000527.5:c.2399_2403delinsGGGT MANE Select | NP_000518.1:p.Val800GlyfsTer? | |
| NM_001195798.2:c.2399_2403delinsGGGT | NP_001182727.1:p.Val800GlyfsTer? | |
| NM_001195799.2:c.2276_2280delinsGGGT | NP_001182728.1:p.Val759GlyfsTer? | |
| NM_001195800.2:c.1895_1899delinsGGGT | NP_001182729.1:p.Val632GlyfsTer? | |
| NM_001195803.2:c.1865_1869delinsGGGT | NP_001182732.1:p.Val622GlyfsTer? |