Linked Data
dbSNP Id:
rs746547421
ExAC:
17:41150868 C / CG
gnomAD v2:
17-41150868-C-CG
gnomAD v4:
17-42998851-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42998851_42998852insG , CM000679.2:g.42998851_42998852insG | GRCh38 |
| NC_000017.10:g.41150868_41150869insG , CM000679.1:g.41150868_41150869insG | GRCh37 |
| NC_000017.9:g.38404394_38404395insG | NCBI36 |
| NG_053099.1:g.5579_5580insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253788.12:c.81+20_81+21insG MANE Select | ENSP00000253788.5:n.81+20_81+21insG | |
| ENST00000589913.6:c.81+20_81+21insG | ENSP00000464813.1:n.81+20_81+21insG | |
| ENST00000590864.2:c.81+20_81+21insG | ENSP00000467939.2:n.81+20_81+21insG | |
| ENST00000253788.9:c.81+20_81+21insG | ENSP00000253788.4:n.81+20_81+21insG | |
| ENST00000586277.5:c.43_44insG | ||
| ENST00000587478.1:n.156_157insG | ||
| ENST00000588830.1:c.81+20_81+21insG | ENSP00000468468.1:n.81+20_81+21insG | |
| ENST00000589037.5:c.81+20_81+21insG | ENSP00000467587.1:n.81+20_81+21insG | |
| ENST00000589913.5:c.81+20_81+21insG | ENSP00000464813.1:n.81+20_81+21insG | |
| ENST00000593262.1:n.433_434insG | ||
| NM_000988.3:c.81+20_81+21insG | NP_000979.1:n.81+20_81+21insG | |
| NM_000988.5:c.81+20_81+21insG MANE Select | NP_000979.1:n.81+20_81+21insG | |
| NM_001349921.1:c.81+20_81+21insG | NP_001336850.1:n.81+20_81+21insG | |
| NM_001349922.1:c.81+20_81+21insG | NP_001336851.1:n.81+20_81+21insG | |
| NR_146327.1:n.164+20_164+21insG | ||
| NM_001349921.2:c.81+20_81+21insG | NP_001336850.1:n.81+20_81+21insG | |
| NM_001349922.2:c.81+20_81+21insG | NP_001336851.1:n.81+20_81+21insG | |
| NR_146327.2:n.136+20_136+21insG |