Linked Data
dbSNP Id:
rs557988762
gnomAD v2:
10-115348258-G-GACA
gnomAD v3:
10-113588499-G-GACA
gnomAD v4:
10-113588499-G-GACA
MyVariant Identifiers:
chr10:g.115348258_115348259insACA (hg19)
chr10:g.113588499_113588500insACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113588502_113588504dup , CM000672.2:g.113588502_113588504dup | GRCh38 |
| NC_000010.10:g.115348261_115348263dup , CM000672.1:g.115348261_115348263dup | GRCh37 |
| NC_000010.9:g.115338251_115338253dup | NCBI36 |
| NG_008956.1:g.40484_40486dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351270.4:c.*133_*135dup MANE Select | ENSP00000277903.4:n.*133_*135dup | |
| ENST00000351270.3:c.*133_*135dup | ENSP00000277903.4:n.*133_*135dup | |
| ENST00000542051.5:c.*133_*135dup | ENSP00000443283.1:n.*133_*135dup | |
| NM_001177660.1:c.*133_*135dup | NP_001171131.1:n.*133_*135dup | |
| NM_004132.3:c.*133_*135dup | NP_004123.1:n.*133_*135dup | |
| NM_001177660.2:c.*133_*135dup | NP_001171131.1:n.*133_*135dup | |
| NM_004132.4:c.*133_*135dup | NP_004123.1:n.*133_*135dup | |
| NM_004132.5:c.*133_*135dup MANE Select | NP_004123.1:n.*133_*135dup | |
| NM_001177660.3:c.*133_*135dup | NP_001171131.1:n.*133_*135dup |