Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924530_27924547delinsCGCCGTGACCTCCGGCGA , CM000675.2:g.27924530_27924547delinsCGCCGTGACCTCCGGCGA | GRCh38 |
| NC_000013.10:g.28498667_28498684delinsCGCCGTGACCTCCGGCGA , CM000675.1:g.28498667_28498684delinsCGCCGTGACCTCCGGCGA | GRCh37 |
| NC_000013.9:g.27396667_27396684delinsCGCCGTGACCTCCGGCGA | NCBI36 |
| NG_008183.1:g.9500_9517delinsCGCCGTGACCTCCGGCGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.681_698delinsCGCCGTGACCTCCGGCGA MANE Select | ENSP00000370421.4:p.Cys227= | |
| ENST00000381033.4:c.681_698delinsCGCCGTGACCTCCGGCGA | ENSP00000370421.4:p.Cys227= | |
| NM_000209.3:c.681_698delinsCGCCGTGACCTCCGGCGA | NP_000200.1:p.Cys227= | |
| NM_000209.4:c.681_698delinsCGCCGTGACCTCCGGCGA MANE Select | NP_000200.1:p.Cys227= |