Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65170122_65170137dup , CM000674.2:g.65170122_65170137dup | GRCh38 |
| NC_000012.11:g.65563902_65563917dup , CM000674.1:g.65563902_65563917dup | GRCh37 |
| NC_000012.10:g.63850169_63850184dup | NCBI36 |
| NG_016210.1:g.5552_5567dup | |
| NG_016210.2:g.5552_5567dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.526_541dup MANE Select | ENSP00000308369.2:p.Glu181AlafsTer9 | |
| ENST00000308330.2:c.526_541dup | ENSP00000308369.2:p.Glu181AlafsTer9 | |
| ENST00000541171.1:n.540_555dup | ||
| NM_001167614.1:c.526_541dup | NP_001161086.1:p.Glu181AlafsTer9 | |
| NM_014319.4:c.526_541dup | NP_055134.2:p.Glu181AlafsTer9 | |
| NM_014319.5:c.526_541dup MANE Select | NP_055134.2:p.Glu181AlafsTer9 | |
| NM_001167614.2:c.526_541dup | NP_001161086.1:p.Glu181AlafsTer9 |