Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.64192065_64192072delinsATTCTAAG , CM000685.2:g.64192065_64192072delinsATTCTAAG | GRCh38 |
| NC_000023.10:g.63411945_63411952delinsATTCTAAG , CM000685.1:g.63411945_63411952delinsATTCTAAG | GRCh37 |
| NC_000023.9:g.63328670_63328677delinsATTCTAAG | NCBI36 |
| NG_021345.1:g.18673_18680delinsCTTAGAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374869.8:c.1215_1222delinsCTTAGAAT MANE Select | ENSP00000364003.4:p.Asp405= | |
| ENST00000330258.3:c.1215_1222delinsCTTAGAAT | ENSP00000329117.3:p.Asp405= | |
| ENST00000374869.7:c.1215_1222delinsCTTAGAAT | ENSP00000364003.3:p.Asp405= | |
| NM_152424.3:c.1215_1222delinsCTTAGAAT | NP_689637.3:p.Asp405= | |
| XM_011530858.1:c.1215_1222delinsCTTAGAAT | XP_011529160.1:p.Asp405= | |
| NM_152424.4:c.1215_1222delinsCTTAGAAT MANE Select | NP_689637.3:p.Asp405= |