Linked Data
dbSNP Id:
rs771626686
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.46698161_46698162insGA , CM000678.2:g.46698161_46698162insGA | GRCh38 |
| NC_000016.9:g.46732073_46732074insGA , CM000678.1:g.46732073_46732074insGA | GRCh37 |
| NC_000016.8:g.45289574_45289575insGA | NCBI36 |
| NG_028241.1:g.13516_13517insGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219097.7:c.*576_*577insGA MANE Select | ENSP00000219097.2:n.*576_*577insGA | |
| ENST00000219097.6:c.*576_*577insGA | ENSP00000219097.2:n.*576_*577insGA | |
| ENST00000566860.1:c.*576_*577insGA | ENSP00000456981.1:n.*576_*577insGA | |
| ENST00000567000.2:n.1339_1340insGA | ||
| NM_014321.3:c.*576_*577insGA | NP_055136.1:n.*576_*577insGA | |
| NR_037620.1:n.1454_1455insGA | ||
| NM_014321.4:c.*576_*577insGA MANE Select | NP_055136.1:n.*576_*577insGA | |
| NR_037620.2:n.1441_1442insGA |