Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566847_137566853delinsCGCCGCT , CM000685.2:g.137566847_137566853delinsCGCCGCT | GRCh38 |
| NC_000023.10:g.136649006_136649012delinsCGCCGCT , CM000685.1:g.136649006_136649012delinsCGCCGCT | GRCh37 |
| NC_000023.9:g.136476672_136476678delinsCGCCGCT | NCBI36 |
| NG_008115.1:g.5661_5667delinsCGCCGCT | |
| NG_008115.2:g.5721_5727delinsCGCCGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.156_162delinsCGCCGCT MANE Select | ENSP00000287538.5:p.Ala52= | |
| ENST00000287538.9:c.156_162delinsCGCCGCT | ENSP00000287538.5:p.Ala52= | |
| ENST00000370606.3:c.156_162delinsCGCCGCT | ENSP00000359638.3:p.Ala52= | |
| NM_003413.3:c.156_162delinsCGCCGCT | NP_003404.1:p.Ala52= | |
| NM_001330661.1:c.156_162delinsCGCCGCT | NP_001317590.1:p.Ala52= | |
| NM_003413.4:c.156_162delinsCGCCGCT MANE Select | NP_003404.1:p.Ala52= |