Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532610_129532622delinsCATCGCTTTCCTG , CM000665.2:g.129532610_129532622delinsCATCGCTTTCCTG | GRCh38 |
| NC_000003.11:g.129251453_129251465delinsCATCGCTTTCCTG , CM000665.1:g.129251453_129251465delinsCATCGCTTTCCTG | GRCh37 |
| NC_000003.10:g.130734143_130734155delinsCATCGCTTTCCTG | NCBI36 |
| NG_009115.1:g.8972_8984delinsCATCGCTTTCCTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296271.4:c.774_786delinsCATCGCTTTCCTG MANE Select | ENSP00000296271.3:p.Val258= | |
| ENST00000296271.3:c.774_786delinsCATCGCTTTCCTG | ENSP00000296271.3:p.Val258= | |
| NM_000539.3:c.774_786delinsCATCGCTTTCCTG MANE Select | NP_000530.1:p.Val258= |