Linked Data
dbSNP Id:
rs1438883170
gnomAD v3:
19-10960970-CGCAGCGGGGGCGCGGGTGGCGCGCGT-C
gnomAD v4:
19-10960970-CGCAGCGGGGGCGCGGGTGGCGCGCGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10960972_10960997del , CM000681.2:g.10960972_10960997del | GRCh38 |
| NC_000019.9:g.11071648_11071673del , CM000681.1:g.11071648_11071673del | GRCh37 |
| NC_000019.8:g.10932648_10932673del | NCBI36 |
| NG_011556.2:g.5051_5076del | |
| NG_011556.3:g.5041_5066del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711079.1:c.-234_-209del | ENSP00000518564.1:n.-234_-209del | |
| ENST00000642628.1:c.-234_-209del | ENSP00000496498.1:n.-234_-209del | |
| ENST00000642726.1:c.-231_-206del | ENSP00000494353.1:n.-231_-206del | |
| ENST00000643296.1:c.-234_-209del | ENSP00000496635.1:n.-234_-209del | |
| ENST00000643549.1:c.-231_-206del | ENSP00000493975.1:n.-231_-206del | |
| ENST00000644737.1:c.-231_-206del | ENSP00000495548.1:n.-231_-206del | |
| ENST00000646484.1:c.-231_-206del | ENSP00000495536.1:n.-231_-206del | |
| ENST00000646693.1:c.-231_-206del | ENSP00000495368.1:n.-231_-206del | |
| ENST00000647230.1:c.-234_-209del | ENSP00000494676.1:n.-234_-209del | |
| NM_001128844.1:c.-310_-285del | NP_001122316.1:n.-310_-285del | |
| NM_003072.3:c.-234_-209del | NP_003063.2:n.-234_-209del |