Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65169935_65169956del , CM000674.2:g.65169935_65169956del | GRCh38 |
| NC_000012.11:g.65563715_65563736del , CM000674.1:g.65563715_65563736del | GRCh37 |
| NC_000012.10:g.63849982_63850003del | NCBI36 |
| NG_016210.1:g.5365_5386del | |
| NG_016210.2:g.5365_5386del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014319.5:c.339_360del MANE Select | NP_055134.2:p.Glu116GlyfsTer? |
| ENST00000308330.3:c.339_360del MANE Select | ENSP00000308369.2:p.Glu116GlyfsTer? |
| NM_001167614.1:c.339_360del | NP_001161086.1:p.Glu116GlyfsTer? |
| NM_001167614.2:c.339_360del | NP_001161086.1:p.Glu116GlyfsTer? |
| NM_014319.4:c.339_360del | NP_055134.2:p.Glu116GlyfsTer? |
| ENST00000308330.2:c.339_360del | ENSP00000308369.2:p.Glu116GlyfsTer? |
| ENST00000541171.1:n.353_374del |