Linked Data
gnomAD v4:
5-178994635-A-ACAGCAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.178994635_178994636insCAGCAT , CM000667.2:g.178994635_178994636insCAGCAT | GRCh38 |
| NC_000005.9:g.178421636_178421637insCAGCAT , CM000667.1:g.178421636_178421637insCAGCAT | GRCh37 |
| NC_000005.8:g.178354242_178354243insCAGCAT | NCBI36 |
| NG_008105.1:g.5488_5489insATGCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517717.3:c.309_310insATGCTG MANE Select | ENSP00000430767.1:p.Thr103_Tyr104insMetLeu | |
| ENST00000650031.1:c.309_310insATGCTG | ENSP00000497110.1:p.Thr103_Tyr104insMetLeu | |
| ENST00000231188.9:c.309_310insATGCTG | ENSP00000231188.5:p.Thr103_Tyr104insMetLeu | |
| ENST00000517717.1:c.309_310insATGCTG | ENSP00000430767.1:p.Thr103_Tyr104insMetLeu | |
| NM_000843.3:c.309_310insATGCTG | NP_000834.2:p.Thr103_Tyr104insMetLeu | |
| NM_000843.4:c.309_310insATGCTG MANE Select | NP_000834.2:p.Thr103_Tyr104insMetLeu |