Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965892_37965900del , CM000670.2:g.37965892_37965900del | GRCh38 |
| NC_000008.10:g.37823410_37823418del , CM000670.1:g.37823410_37823418del | GRCh37 |
| NC_000008.9:g.37942567_37942575del | NCBI36 |
| NG_011936.1:g.5767_5775del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.570_578del MANE Select | ENSP00000343782.3:p.His190_Pro193delinsGln | |
| ENST00000520341.2:n.698_706del | ||
| ENST00000647937.1:c.54_62del | ENSP00000497740.1:p.His18_Pro21delinsGln | |
| ENST00000345060.4:c.570_578del | ENSP00000343782.3:p.His190_Pro193delinsGln | |
| ENST00000614635.1:c.570_578del | ENSP00000480325.1:p.His190_Pro193delinsGln | |
| NM_000025.2:c.570_578del | NP_000016.1:p.His190_Pro193delinsGln | |
| NM_000025.3:c.570_578del MANE Select | NP_000016.1:p.His190_Pro193delinsGln |