Linked Data
ClinVar Variation Id:
1589705
ClinVar RCV Id:
RCV002105110
dbSNP Id:
rs1558285044
gnomAD v2:
1-193111212-TACTC-T
gnomAD v4:
1-193142082-TACTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193142084_193142087del , CM000663.2:g.193142084_193142087del | GRCh38 |
| NC_000001.10:g.193111214_193111217del , CM000663.1:g.193111214_193111217del | GRCh37 |
| NC_000001.9:g.191377837_191377840del | NCBI36 |
| NG_012691.1:g.25127_25130del , LRG_507:g.25127_25130del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.729+18_729+21del MANE Select | ENSP00000356405.4:n.729+18_729+21del | |
| ENST00000635846.1:c.729+18_729+21del | ENSP00000490035.1:n.729+18_729+21del | |
| ENST00000643006.1:c.729+18_729+21del | ENSP00000496633.1:n.729+18_729+21del | |
| ENST00000643784.1:c.*205+18_*205+21del | ENSP00000494944.1:n.*205+18_*205+21del | |
| ENST00000647662.1:n.630+18_630+21del | ||
| ENST00000648071.1:c.*705+18_*705+21del | ENSP00000497513.1:n.*705+18_*705+21del | |
| ENST00000649606.1:n.742+18_742+21del | ||
| ENST00000649895.1:n.947+18_947+21del | ||
| ENST00000650197.1:c.729+18_729+21del | ENSP00000496929.1:n.729+18_729+21del | |
| ENST00000367435.3:c.729+18_729+21del | ENSP00000356405.3:n.729+18_729+21del | |
| NM_024529.4:c.729+18_729+21del , LRG_507t1:c.729+18_729+21del | NP_078805.3:n.729+18_729+21del | |
| XM_006711537.2:c.729+18_729+21del | XP_006711600.1:n.729+18_729+21del | |
| XM_006711537.4:c.729+18_729+21del | XP_006711600.1:n.729+18_729+21del | |
| NM_024529.5:c.729+18_729+21del MANE Select | NP_078805.3:n.729+18_729+21del |