Linked Data
dbSNP Id:
rs1306902775
gnomAD v2:
19-11234135-CCTT-C
gnomAD v3:
19-11123459-CCTT-C
gnomAD v4:
19-11123459-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11123462_11123464del , CM000681.2:g.11123462_11123464del | GRCh38 |
| NC_000019.9:g.11234138_11234140del , CM000681.1:g.11234138_11234140del | GRCh37 |
| NC_000019.8:g.11095138_11095140del | NCBI36 |
| NG_009060.1:g.39082_39084del , LRG_274:g.39082_39084del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2569+118_2569+120del | ENSP00000252444.6:n.2569+118_2569+120del | |
| ENST00000559340.2:c.*380+118_*380+120del | ENSP00000453696.2:n.*380+118_*380+120del | |
| ENST00000560467.2:c.2191+118_2191+120del | ENSP00000453513.2:n.2191+118_2191+120del | |
| ENST00000558518.6:c.2311+118_2311+120del MANE Select | ENSP00000454071.1:n.2311+118_2311+120del | |
| ENST00000252444.9:c.2565+118_2565+120del | ||
| ENST00000455727.6:c.1807+118_1807+120del | ENSP00000397829.2:n.1807+118_1807+120del | |
| ENST00000535915.5:c.2188+118_2188+120del | ENSP00000440520.1:n.2188+118_2188+120del | |
| ENST00000545707.5:c.1777+118_1777+120del | ENSP00000437639.1:n.1777+118_1777+120del | |
| ENST00000557933.5:c.2311+118_2311+120del | ENSP00000453557.1:n.2311+118_2311+120del | |
| ENST00000558013.5:c.2311+118_2311+120del | ENSP00000453346.1:n.2311+118_2311+120del | |
| ENST00000558518.5:c.2311+118_2311+120del | ENSP00000454071.1:n.2311+118_2311+120del | |
| NM_000527.4:c.2311+118_2311+120del , LRG_274t1:c.2311+118_2311+120del | NP_000518.1:n.2311+118_2311+120del | |
| NM_001195798.1:c.2311+118_2311+120del | NP_001182727.1:n.2311+118_2311+120del | |
| NM_001195799.1:c.2188+118_2188+120del | NP_001182728.1:n.2188+118_2188+120del | |
| NM_001195800.1:c.1807+118_1807+120del | NP_001182729.1:n.1807+118_1807+120del | |
| NM_001195803.1:c.1777+118_1777+120del | NP_001182732.1:n.1777+118_1777+120del | |
| XM_011528010.1:c.2311+118_2311+120del | XP_011526312.1:n.2311+118_2311+120del | |
| XM_011528011.1:c.1930+118_1930+120del | XP_011526313.1:n.1930+118_1930+120del | |
| XR_244074.2:n.2321+118_2321+120del | ||
| XM_011528010.2:c.2311+118_2311+120del | XP_011526312.1:n.2311+118_2311+120del | |
| XR_001753685.2:n.2645+118_2645+120del | ||
| XR_001753686.2:n.2288+118_2288+120del | ||
| NM_000527.5:c.2311+118_2311+120del MANE Select | NP_000518.1:n.2311+118_2311+120del | |
| NM_001195798.2:c.2311+118_2311+120del | NP_001182727.1:n.2311+118_2311+120del | |
| NM_001195799.2:c.2188+118_2188+120del | NP_001182728.1:n.2188+118_2188+120del | |
| NM_001195800.2:c.1807+118_1807+120del | NP_001182729.1:n.1807+118_1807+120del | |
| NM_001195803.2:c.1777+118_1777+120del | NP_001182732.1:n.1777+118_1777+120del |