Linked Data
dbSNP Id:
rs1377030439
gnomAD v2:
19-11215772-ACTG-A
gnomAD v3:
19-11105096-ACTG-A
gnomAD v4:
19-11105096-ACTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105099_11105101del , CM000681.2:g.11105099_11105101del | GRCh38 |
| NC_000019.9:g.11215775_11215777del , CM000681.1:g.11215775_11215777del | GRCh37 |
| NC_000019.8:g.11076775_11076777del | NCBI36 |
| NG_009060.1:g.20719_20721del , LRG_274:g.20719_20721del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.572-121_572-119del | ENSP00000252444.6:n.572-121_572-119del | |
| ENST00000559340.2:c.314-121_314-119del | ENSP00000453696.2:n.314-121_314-119del | |
| ENST00000560467.2:c.314-121_314-119del | ENSP00000453513.2:n.314-121_314-119del | |
| ENST00000558518.6:c.314-121_314-119del MANE Select | ENSP00000454071.1:n.314-121_314-119del | |
| ENST00000252444.9:c.568-121_568-119del | ||
| ENST00000455727.6:c.314-2293_314-2291del | ENSP00000397829.2:n.314-2293_314-2291del | |
| ENST00000535915.5:c.191-121_191-119del | ENSP00000440520.1:n.191-121_191-119del | |
| ENST00000545707.5:c.314-1466_314-1464del | ENSP00000437639.1:n.314-1466_314-1464del | |
| ENST00000557933.5:c.314-121_314-119del | ENSP00000453557.1:n.314-121_314-119del | |
| ENST00000558013.5:c.314-121_314-119del | ENSP00000453346.1:n.314-121_314-119del | |
| ENST00000558518.5:c.314-121_314-119del | ENSP00000454071.1:n.314-121_314-119del | |
| NM_000527.4:c.314-121_314-119del , LRG_274t1:c.314-121_314-119del | NP_000518.1:n.314-121_314-119del | |
| NM_001195798.1:c.314-121_314-119del | NP_001182727.1:n.314-121_314-119del | |
| NM_001195799.1:c.191-121_191-119del | NP_001182728.1:n.191-121_191-119del | |
| NM_001195800.1:c.314-2293_314-2291del | NP_001182729.1:n.314-2293_314-2291del | |
| NM_001195803.1:c.314-1466_314-1464del | NP_001182732.1:n.314-1466_314-1464del | |
| XM_011528010.1:c.314-121_314-119del | XP_011526312.1:n.314-121_314-119del | |
| XM_011528011.1:c.314-1466_314-1464del | XP_011526313.1:n.314-1466_314-1464del | |
| XR_244074.2:n.464-121_464-119del | ||
| XM_011528010.2:c.314-121_314-119del | XP_011526312.1:n.314-121_314-119del | |
| XR_001753685.2:n.431-121_431-119del | ||
| XR_001753686.2:n.431-121_431-119del | ||
| NM_000527.5:c.314-121_314-119del MANE Select | NP_000518.1:n.314-121_314-119del | |
| NM_001195798.2:c.314-121_314-119del | NP_001182727.1:n.314-121_314-119del | |
| NM_001195799.2:c.191-121_191-119del | NP_001182728.1:n.191-121_191-119del | |
| NM_001195800.2:c.314-2293_314-2291del | NP_001182729.1:n.314-2293_314-2291del | |
| NM_001195803.2:c.314-1466_314-1464del | NP_001182732.1:n.314-1466_314-1464del |