Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94046952_94046953delinsAG , CM000663.2:g.94046952_94046953delinsAG | GRCh38 |
| NC_000001.10:g.94512508_94512509delinsAG , CM000663.1:g.94512508_94512509delinsAG | GRCh37 |
| NC_000001.9:g.94285096_94285097delinsAG | NCBI36 |
| NG_009073.1:g.79197_79198delinsCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.2884_2885delinsCT MANE Select | ENSP00000359245.3:p.Leu962= | |
| ENST00000649773.1:c.2662_2663delinsCT | ENSP00000496882.1:p.Leu888= | |
| ENST00000370225.3:c.2884_2885delinsCT | ENSP00000359245.3:p.Leu962= | |
| ENST00000536513.5:c.-64-6864_-64-6863delinsCT | ENSP00000439707.2:n.-64-6864_-64-6863deli... | |
| NM_000350.2:c.2884_2885delinsCT | NP_000341.2:p.Leu962= | |
| NM_000350.3:c.2884_2885delinsCT MANE Select | NP_000341.2:p.Leu962= |