Linked Data
ClinVar Variation Id:
2964763
ClinVar RCV Id:
RCV003828385
dbSNP Id:
rs1173602263
gnomAD v4:
19-11111499-TTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11111507_11111508del , CM000681.2:g.11111507_11111508del | GRCh38 |
| NC_000019.9:g.11222183_11222184del , CM000681.1:g.11222183_11222184del | GRCh37 |
| NC_000019.8:g.11083183_11083184del | NCBI36 |
| NG_009060.1:g.27127_27128del , LRG_274:g.27127_27128del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1319-7_1319-6del | ENSP00000252444.6:n.1319-7_1319-6del | |
| ENST00000559340.2:c.1061-7_1061-6del | ENSP00000453696.2:n.1061-7_1061-6del | |
| ENST00000560467.2:c.941-7_941-6del | ENSP00000453513.2:n.941-7_941-6del | |
| ENST00000558518.6:c.1061-7_1061-6del MANE Select | ENSP00000454071.1:n.1061-7_1061-6del | |
| ENST00000252444.9:c.1315-7_1315-6del | ||
| ENST00000455727.6:c.557-7_557-6del | ENSP00000397829.2:n.557-7_557-6del | |
| ENST00000535915.5:c.938-7_938-6del | ENSP00000440520.1:n.938-7_938-6del | |
| ENST00000545707.5:c.680-7_680-6del | ENSP00000437639.1:n.680-7_680-6del | |
| ENST00000557933.5:c.1061-7_1061-6del | ENSP00000453557.1:n.1061-7_1061-6del | |
| ENST00000558013.5:c.1061-7_1061-6del | ENSP00000453346.1:n.1061-7_1061-6del | |
| ENST00000558518.5:c.1061-7_1061-6del | ENSP00000454071.1:n.1061-7_1061-6del | |
| ENST00000560173.1:n.60-7_60-6del | ||
| ENST00000560467.1:c.541-7_541-6del | ||
| NM_000527.4:c.1061-7_1061-6del , LRG_274t1:c.1061-7_1061-6del | NP_000518.1:n.1061-7_1061-6del | |
| NM_001195798.1:c.1061-7_1061-6del | NP_001182727.1:n.1061-7_1061-6del | |
| NM_001195799.1:c.938-7_938-6del | NP_001182728.1:n.938-7_938-6del | |
| NM_001195800.1:c.557-7_557-6del | NP_001182729.1:n.557-7_557-6del | |
| NM_001195803.1:c.680-7_680-6del | NP_001182732.1:n.680-7_680-6del | |
| XM_011528010.1:c.1061-7_1061-6del | XP_011526312.1:n.1061-7_1061-6del | |
| XM_011528011.1:c.680-7_680-6del | XP_011526313.1:n.680-7_680-6del | |
| XR_244074.2:n.1211-7_1211-6del | ||
| XM_011528010.2:c.1061-7_1061-6del | XP_011526312.1:n.1061-7_1061-6del | |
| XR_001753685.2:n.1178-7_1178-6del | ||
| XR_001753686.2:n.1178-7_1178-6del | ||
| NM_000527.5:c.1061-7_1061-6del MANE Select | NP_000518.1:n.1061-7_1061-6del | |
| NM_001195798.2:c.1061-7_1061-6del | NP_001182727.1:n.1061-7_1061-6del | |
| NM_001195799.2:c.938-7_938-6del | NP_001182728.1:n.938-7_938-6del | |
| NM_001195800.2:c.557-7_557-6del | NP_001182729.1:n.557-7_557-6del | |
| NM_001195803.2:c.680-7_680-6del | NP_001182732.1:n.680-7_680-6del |