Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566825_137566840delinsACGCCGCCGCCGCCGC , CM000685.2:g.137566825_137566840delinsACGCCGCCGCCGCCGC | GRCh38 |
| NC_000023.10:g.136648984_136648999delinsACGCCGCCGCCGCCGC , CM000685.1:g.136648984_136648999delinsACGCCGCCGCCGCCGC | GRCh37 |
| NC_000023.9:g.136476650_136476665delinsACGCCGCCGCCGCCGC | NCBI36 |
| NG_008115.1:g.5639_5654delinsACGCCGCCGCCGCCGC | |
| NG_008115.2:g.5699_5714delinsACGCCGCCGCCGCCGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.134_149delinsACGCCGCCGCCGCCGC MANE Select | ENSP00000287538.5:p.His45= | |
| ENST00000287538.9:c.134_149delinsACGCCGCCGCCGCCGC | ENSP00000287538.5:p.His45= | |
| ENST00000370606.3:c.134_149delinsACGCCGCCGCCGCCGC | ENSP00000359638.3:p.His45= | |
| NM_003413.3:c.134_149delinsACGCCGCCGCCGCCGC | NP_003404.1:p.His45= | |
| NM_001330661.1:c.134_149delinsACGCCGCCGCCGCCGC | NP_001317590.1:p.His45= | |
| NM_003413.4:c.134_149delinsACGCCGCCGCCGCCGC MANE Select | NP_003404.1:p.His45= |