Linked Data
dbSNP Id:
rs1954641975
gnomAD v3:
10-54901680-C-CTATTATATTATTATAATT
gnomAD v4:
10-54901680-C-CTATTATATTATTATAATT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.54901680_54901681insTATTATATTATTATAATT , CM000672.2:g.54901680_54901681insTATTATATTATTATAATT | GRCh38 |
| NC_000010.10:g.56661440_56661441insTATTATATTATTATAATT , CM000672.1:g.56661440_56661441insTATTATATTATTATAATT | GRCh37 |
| NC_000010.9:g.56331446_56331447insTATTATATTATTATAATT | NCBI36 |
| NG_009191.3:g.732502_732503insAATTATAATAATATAATA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458638.1:c.-79-4181_-79-4180insAATTATAATAATATAATA | ENSP00000394465.1:n.-79-4181_-79-4180insAATTATAATAATATAATA | |
| ENST00000613346.4:c.-79-4181_-79-4180insAATTATAATAATATAATA | ENSP00000481211.1:n.-79-4181_-79-4180insAATTATAATAATATAATA | |
| NM_001354404.1:c.-79-4181_-79-4180insAATTATAATAATATAATA | NP_001341333.1:n.-79-4181_-79-4180insAATTATAATAATATAATA | |
| XM_017016573.2:c.-79-4181_-79-4180insAATTATAATAATATAATA | XP_016872062.1:n.-79-4181_-79-4180insAATTATAATAATATAATA | |
| NM_001354404.2:c.-79-4181_-79-4180insAATTATAATAATATAATA | NP_001341333.1:n.-79-4181_-79-4180insAATTATAATAATATAATA |