Linked Data
dbSNP Id:
rs1954642117
gnomAD v3:
10-54901688-A-AATTATATTATATTATAATTATATATTAT
gnomAD v4:
10-54901688-A-AATTATATTATATTATAATTATATATTAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.54901690_54901691insTATATTATATTATAATTATATATTATAT , CM000672.2:g.54901690_54901691insTATATTATATTATAATTATATATTATAT | GRCh38 |
| NC_000010.10:g.56661450_56661451insTATATTATATTATAATTATATATTATAT , CM000672.1:g.56661450_56661451insTATATTATATTATAATTATATATTATAT | GRCh37 |
| NC_000010.9:g.56331456_56331457insTATATTATATTATAATTATATATTATAT | NCBI36 |
| NG_009191.3:g.732494_732495insATAATATATAATTATAATATAATATAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458638.1:c.-79-4189_-79-4188insATAATATATAATTATAATATAATATAAT | ENSP00000394465.1:n.-79-4189_-79-4188insATAATATATAATTATAATATA... | |
| ENST00000613346.4:c.-79-4189_-79-4188insATAATATATAATTATAATATAATATAAT | ENSP00000481211.1:n.-79-4189_-79-4188insATAATATATAATTATAATATA... | |
| NM_001354404.1:c.-79-4189_-79-4188insATAATATATAATTATAATATAATATAAT | NP_001341333.1:n.-79-4189_-79-4188insATAATATATAATTATAATATAATA... | |
| XM_017016573.2:c.-79-4189_-79-4188insATAATATATAATTATAATATAATATAAT | XP_016872062.1:n.-79-4189_-79-4188insATAATATATAATTATAATATAATA... | |
| NM_001354404.2:c.-79-4189_-79-4188insATAATATATAATTATAATATAATATAAT | NP_001341333.1:n.-79-4189_-79-4188insATAATATATAATTATAATATAATA... |