Linked Data
ClinVar Variation Id:
1003226
ClinVar RCV Id:
RCV003538646
dbSNP Id:
rs1750583446
gnomAD v4:
5-112707587-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707587_112707588insT , CM000667.2:g.112707587_112707588insT | GRCh38 |
| NC_000005.9:g.112043284_112043285insT , CM000667.1:g.112043284_112043285insT | GRCh37 |
| NC_000005.8:g.112071183_112071184insT | NCBI36 |
| NG_008481.4:g.20067_20068insT , LRG_130:g.20067_20068insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505350.2:c.-131_-130insT | ENSP00000481752.1:n.-131_-130insT | |
| ENST00000507379.6:c.-131_-130insT | ENSP00000423224.2:n.-131_-130insT | |
| ENST00000509732.6:c.-81_-80insT | ENSP00000426541.2:n.-81_-80insT | |
| ENST00000505350.1:c.-131_-130insT | ENSP00000481752.1:n.-131_-130insT | |
| ENST00000507379.5:c.-131_-130insT | ENSP00000423224.1:n.-131_-130insT | |
| ENST00000509732.5:c.-81_-80insT | ENSP00000426541.1:n.-81_-80insT | |
| NM_001127511.2:c.-131_-130insT | NP_001120983.2:n.-131_-130insT | |
| NM_001354895.1:c.-314_-313insT | NP_001341824.1:n.-314_-313insT | |
| NM_001354897.1:c.-131_-130insT | NP_001341826.1:n.-131_-130insT | |
| NM_001354902.1:c.-131_-130insT | NP_001341831.1:n.-131_-130insT | |
| NM_001127511.3:c.-131_-130insT | NP_001120983.2:n.-131_-130insT | |
| NM_001354895.2:c.-314_-313insT | NP_001341824.1:n.-314_-313insT | |
| NM_001354897.2:c.-131_-130insT | NP_001341826.1:n.-131_-130insT | |
| NM_001354902.2:c.-131_-130insT | NP_001341831.1:n.-131_-130insT |