Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071212_29071214delinsCTG , CM000664.2:g.29071212_29071214delinsCTG | GRCh38 |
| NC_000002.11:g.29294078_29294080delinsCTG , CM000664.1:g.29294078_29294080delinsCTG | GRCh37 |
| NC_000002.10:g.29147582_29147584delinsCTG | NCBI36 |
| NG_021427.1:g.8048_8050delinsCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3048_3050delinsCAG MANE Select | ENSP00000332809.4:p.Tyr1016= | |
| ENST00000331664.5:c.3048_3050delinsCAG | ENSP00000332809.4:p.Tyr1016= | |
| NM_001029883.2:c.3048_3050delinsCAG | NP_001025054.1:p.Tyr1016= | |
| XM_011532826.1:c.3048_3050delinsCAG | XP_011531128.1:p.Tyr1016= | |
| XR_939901.1:n.185+2045_185+2047delinsCTG | ||
| XR_939902.1:n.173+2057_173+2059delinsCTG | ||
| NM_001029883.3:c.3048_3050delinsCAG MANE Select | NP_001025054.1:p.Tyr1016= |