Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65238503_65238504delinsAT , CM000674.2:g.65238503_65238504delinsAT | GRCh38 |
| NC_000012.11:g.65632283_65632284delinsAT , CM000674.1:g.65632283_65632284delinsAT | GRCh37 |
| NC_000012.10:g.63918550_63918551delinsAT | NCBI36 |
| NG_016210.1:g.73933_73934delinsAT | |
| NG_016210.2:g.73933_73934delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.1697_1698delinsAT MANE Select | ENSP00000308369.2:p.Asp566= | |
| ENST00000308330.2:c.1697_1698delinsAT | ENSP00000308369.2:p.Asp566= | |
| NM_001167614.1:c.1694_1695delinsAT | NP_001161086.1:p.Asp565= | |
| NM_014319.4:c.1697_1698delinsAT | NP_055134.2:p.Asp566= | |
| NM_014319.5:c.1697_1698delinsAT MANE Select | NP_055134.2:p.Asp566= | |
| NM_001167614.2:c.1694_1695delinsAT | NP_001161086.1:p.Asp565= |