Linked Data
ClinVar Variation Id:
252301
ClinVar RCV Id:
RCV000237718
dbSNP Id:
rs879255187
MyVariant Identifiers:
chr19:g.11238763_11238766delinsGGCCCCAT (hg19)
chr19:g.11128087_11128090delinsGGCCCCAT (hg38)
PubMed:
PMID:23375686
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11128087_11128090delinsGGCCCCAT , CM000681.2:g.11128087_11128090delinsGGCCCCAT | GRCh38 |
| NC_000019.9:g.11238763_11238766delinsGGCCCCAT , CM000681.1:g.11238763_11238766delinsGGCCCCAT | GRCh37 |
| NC_000019.8:g.11099763_11099766delinsGGCCCCAT | NCBI36 |
| NG_009060.1:g.43707_43710delinsGGCCCCAT , LRG_274:g.43707_43710delinsGGCCCCAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2647+2_2647+5delinsGGCCCCAT | ENSP00000252444.6:n.2647+2_2647+5delinsGGCCCCAT | |
| ENST00000559340.2:c.*458+2_*458+5delinsGGCCCCAT | ENSP00000453696.2:n.*458+2_*458+5delinsGGCCCCAT | |
| ENST00000560467.2:c.2269+2_2269+5delinsGGCCCCAT | ENSP00000453513.2:n.2269+2_2269+5delinsGGCCCCAT | |
| ENST00000558518.6:c.2389+2_2389+5delinsGGCCCCAT MANE Select | ENSP00000454071.1:n.2389+2_2389+5delinsGGCCCCAT | |
| ENST00000252444.9:c.2643+2_2643+5delinsGGCCCCAT | ||
| ENST00000455727.6:c.1885+2_1885+5delinsGGCCCCAT | ENSP00000397829.2:n.1885+2_1885+5delinsGGCCCCAT | |
| ENST00000535915.5:c.2266+2_2266+5delinsGGCCCCAT | ENSP00000440520.1:n.2266+2_2266+5delinsGGCCCCAT | |
| ENST00000545707.5:c.1855+2_1855+5delinsGGCCCCAT | ENSP00000437639.1:n.1855+2_1855+5delinsGGCCCCAT | |
| ENST00000557933.5:c.2389+2_2389+5delinsGGCCCCAT | ENSP00000453557.1:n.2389+2_2389+5delinsGGCCCCAT | |
| ENST00000558013.5:c.2389+2_2389+5delinsGGCCCCAT | ENSP00000453346.1:n.2389+2_2389+5delinsGGCCCCAT | |
| ENST00000558518.5:c.2389+2_2389+5delinsGGCCCCAT | ENSP00000454071.1:n.2389+2_2389+5delinsGGCCCCAT | |
| ENST00000560628.1:n.108+433_108+436delinsGGCCCCAT | ||
| NM_000527.4:c.2389+2_2389+5delinsGGCCCCAT , LRG_274t1:c.2389+2_2389+5delinsGGCCCCAT | NP_000518.1:n.2389+2_2389+5delinsGGCCCCAT | |
| NM_001195798.1:c.2389+2_2389+5delinsGGCCCCAT | NP_001182727.1:n.2389+2_2389+5delinsGGCCCCAT | |
| NM_001195799.1:c.2266+2_2266+5delinsGGCCCCAT | NP_001182728.1:n.2266+2_2266+5delinsGGCCCCAT | |
| NM_001195800.1:c.1885+2_1885+5delinsGGCCCCAT | NP_001182729.1:n.1885+2_1885+5delinsGGCCCCAT | |
| NM_001195803.1:c.1855+2_1855+5delinsGGCCCCAT | NP_001182732.1:n.1855+2_1855+5delinsGGCCCCAT | |
| XM_011528010.1:c.2312-1426_2312-1423delinsGGCCCCAT | XP_011526312.1:n.2312-1426_2312-1423delinsGGCCCCAT | |
| XM_011528011.1:c.2008+2_2008+5delinsGGCCCCAT | XP_011526313.1:n.2008+2_2008+5delinsGGCCCCAT | |
| XR_244074.2:n.2399+2_2399+5delinsGGCCCCAT | ||
| XM_011528010.2:c.2312-1426_2312-1423delinsGGCCCCAT | XP_011526312.1:n.2312-1426_2312-1423delinsGGCCCCAT | |
| XR_001753685.2:n.2723+2_2723+5delinsGGCCCCAT | ||
| XR_001753686.2:n.2366+2_2366+5delinsGGCCCCAT | ||
| NM_000527.5:c.2389+2_2389+5delinsGGCCCCAT MANE Select | NP_000518.1:n.2389+2_2389+5delinsGGCCCCAT | |
| NM_001195798.2:c.2389+2_2389+5delinsGGCCCCAT | NP_001182727.1:n.2389+2_2389+5delinsGGCCCCAT | |
| NM_001195799.2:c.2266+2_2266+5delinsGGCCCCAT | NP_001182728.1:n.2266+2_2266+5delinsGGCCCCAT | |
| NM_001195800.2:c.1885+2_1885+5delinsGGCCCCAT | NP_001182729.1:n.1885+2_1885+5delinsGGCCCCAT | |
| NM_001195803.2:c.1855+2_1855+5delinsGGCCCCAT | NP_001182732.1:n.1855+2_1855+5delinsGGCCCCAT |