Linked Data
ClinVar Variation Id:
252288
ClinVar RCV Id:
RCV000237980
dbSNP Id:
rs879255180
PubMed:
PMID:11933210
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11128029_11128030insC , CM000681.2:g.11128029_11128030insC | GRCh38 |
| NC_000019.9:g.11238705_11238706insC , CM000681.1:g.11238705_11238706insC | GRCh37 |
| NC_000019.8:g.11099705_11099706insC | NCBI36 |
| NG_009060.1:g.43649_43650insC , LRG_274:g.43649_43650insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2591_2592insC | ENSP00000252444.6:p.Arg864SerfsTer4 | |
| ENST00000559340.2:c.*402_*403insC | ENSP00000453696.2:n.*402_*403insC | |
| ENST00000560467.2:c.2213_2214insC | ENSP00000453513.2:p.Arg738SerfsTer4 | |
| ENST00000558518.6:c.2333_2334insC MANE Select | ENSP00000454071.1:p.Arg778SerfsTer4 | |
| ENST00000252444.9:c.2587_2588insC | ||
| ENST00000455727.6:c.1829_1830insC | ENSP00000397829.2:p.Arg610SerfsTer4 | |
| ENST00000535915.5:c.2210_2211insC | ENSP00000440520.1:p.Arg737SerfsTer4 | |
| ENST00000545707.5:c.1799_1800insC | ENSP00000437639.1:p.Arg600SerfsTer4 | |
| ENST00000557933.5:c.2333_2334insC | ENSP00000453557.1:p.Arg778SerfsTer4 | |
| ENST00000558013.5:c.2333_2334insC | ENSP00000453346.1:p.Arg778SerfsTer4 | |
| ENST00000558518.5:c.2333_2334insC | ENSP00000454071.1:p.Arg778SerfsTer4 | |
| ENST00000560628.1:n.108+375_108+376insC | ||
| NM_000527.4:c.2333_2334insC , LRG_274t1:c.2333_2334insC | NP_000518.1:p.Arg778SerfsTer4 | |
| NM_001195798.1:c.2333_2334insC | NP_001182727.1:p.Arg778SerfsTer4 | |
| NM_001195799.1:c.2210_2211insC | NP_001182728.1:p.Arg737SerfsTer4 | |
| NM_001195800.1:c.1829_1830insC | NP_001182729.1:p.Arg610SerfsTer4 | |
| NM_001195803.1:c.1799_1800insC | NP_001182732.1:p.Arg600SerfsTer4 | |
| XM_011528010.1:c.2312-1484_2312-1483insC | XP_011526312.1:n.2312-1484_2312-1483insC | |
| XM_011528011.1:c.1952_1953insC | XP_011526313.1:p.Arg651SerfsTer4 | |
| XR_244074.2:n.2343_2344insC | ||
| XM_011528010.2:c.2312-1484_2312-1483insC | XP_011526312.1:n.2312-1484_2312-1483insC | |
| XR_001753685.2:n.2667_2668insC | ||
| XR_001753686.2:n.2310_2311insC | ||
| NM_000527.5:c.2333_2334insC MANE Select | NP_000518.1:p.Arg778SerfsTer4 | |
| NM_001195798.2:c.2333_2334insC | NP_001182727.1:p.Arg778SerfsTer4 | |
| NM_001195799.2:c.2210_2211insC | NP_001182728.1:p.Arg737SerfsTer4 | |
| NM_001195800.2:c.1829_1830insC | NP_001182729.1:p.Arg610SerfsTer4 | |
| NM_001195803.2:c.1799_1800insC | NP_001182732.1:p.Arg600SerfsTer4 |