Linked Data
ClinVar Variation Id:
1509907
ClinVar RCV Id:
RCV002042916
dbSNP Id:
rs755102689
gnomAD v2:
19-11238775-G-GGTCCCCCAGC
gnomAD v3:
19-11128099-G-GGTCCCCCAGC
gnomAD v4:
19-11128099-G-GGTCCCCCAGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11128109_11128118dup , CM000681.2:g.11128109_11128118dup | GRCh38 |
| NC_000019.9:g.11238785_11238794dup , CM000681.1:g.11238785_11238794dup | GRCh37 |
| NC_000019.8:g.11099785_11099794dup | NCBI36 |
| NG_009060.1:g.43729_43738dup , LRG_274:g.43729_43738dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2647+24_2647+33dup | ENSP00000252444.6:n.2647+24_2647+33dup | |
| ENST00000559340.2:c.*458+24_*458+33dup | ENSP00000453696.2:n.*458+24_*458+33dup | |
| ENST00000560467.2:c.2269+24_2269+33dup | ENSP00000453513.2:n.2269+24_2269+33dup | |
| ENST00000558518.6:c.2389+24_2389+33dup MANE Select | ENSP00000454071.1:n.2389+24_2389+33dup | |
| ENST00000252444.9:c.2643+24_2643+33dup | ||
| ENST00000455727.6:c.1885+24_1885+33dup | ENSP00000397829.2:n.1885+24_1885+33dup | |
| ENST00000535915.5:c.2266+24_2266+33dup | ENSP00000440520.1:n.2266+24_2266+33dup | |
| ENST00000545707.5:c.1855+24_1855+33dup | ENSP00000437639.1:n.1855+24_1855+33dup | |
| ENST00000557933.5:c.2389+24_2389+33dup | ENSP00000453557.1:n.2389+24_2389+33dup | |
| ENST00000558013.5:c.2389+24_2389+33dup | ENSP00000453346.1:n.2389+24_2389+33dup | |
| ENST00000558518.5:c.2389+24_2389+33dup | ENSP00000454071.1:n.2389+24_2389+33dup | |
| ENST00000560628.1:n.108+455_108+464dup | ||
| NM_000527.4:c.2389+24_2389+33dup , LRG_274t1:c.2389+24_2389+33dup | NP_000518.1:n.2389+24_2389+33dup | |
| NM_001195798.1:c.2389+24_2389+33dup | NP_001182727.1:n.2389+24_2389+33dup | |
| NM_001195799.1:c.2266+24_2266+33dup | NP_001182728.1:n.2266+24_2266+33dup | |
| NM_001195800.1:c.1885+24_1885+33dup | NP_001182729.1:n.1885+24_1885+33dup | |
| NM_001195803.1:c.1855+24_1855+33dup | NP_001182732.1:n.1855+24_1855+33dup | |
| XM_011528010.1:c.2312-1404_2312-1395dup | XP_011526312.1:n.2312-1404_2312-1395dup | |
| XM_011528011.1:c.2008+24_2008+33dup | XP_011526313.1:n.2008+24_2008+33dup | |
| XR_244074.2:n.2399+24_2399+33dup | ||
| XM_011528010.2:c.2312-1404_2312-1395dup | XP_011526312.1:n.2312-1404_2312-1395dup | |
| XR_001753685.2:n.2723+24_2723+33dup | ||
| XR_001753686.2:n.2366+24_2366+33dup | ||
| NM_000527.5:c.2389+24_2389+33dup MANE Select | NP_000518.1:n.2389+24_2389+33dup | |
| NM_001195798.2:c.2389+24_2389+33dup | NP_001182727.1:n.2389+24_2389+33dup | |
| NM_001195799.2:c.2266+24_2266+33dup | NP_001182728.1:n.2266+24_2266+33dup | |
| NM_001195800.2:c.1885+24_1885+33dup | NP_001182729.1:n.1885+24_1885+33dup | |
| NM_001195803.2:c.1855+24_1855+33dup | NP_001182732.1:n.1855+24_1855+33dup |