Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566850_137566853delinsCGCT , CM000685.2:g.137566850_137566853delinsCGCT | GRCh38 |
| NC_000023.10:g.136649009_136649012delinsCGCT , CM000685.1:g.136649009_136649012delinsCGCT | GRCh37 |
| NC_000023.9:g.136476675_136476678delinsCGCT | NCBI36 |
| NG_008115.1:g.5664_5667delinsCGCT | |
| NG_008115.2:g.5724_5727delinsCGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.159_162delinsCGCT MANE Select | ENSP00000287538.5:p.Ala53= | |
| ENST00000287538.9:c.159_162delinsCGCT | ENSP00000287538.5:p.Ala53= | |
| ENST00000370606.3:c.159_162delinsCGCT | ENSP00000359638.3:p.Ala53= | |
| NM_003413.3:c.159_162delinsCGCT | NP_003404.1:p.Ala53= | |
| NM_001330661.1:c.159_162delinsCGCT | NP_001317590.1:p.Ala53= | |
| NM_003413.4:c.159_162delinsCGCT MANE Select | NP_003404.1:p.Ala53= |