Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227005_5227014delinsGGAGTCAGAT , CM000673.2:g.5227005_5227014delinsGGAGTCAGAT | GRCh38 |
| NC_000011.9:g.5248235_5248244delinsGGAGTCAGAT , CM000673.1:g.5248235_5248244delinsGGAGTCAGAT | GRCh37 |
| NC_000011.8:g.5204811_5204820delinsGGAGTCAGAT | NCBI36 |
| NG_000007.3:g.70602_70611delinsATCTGACTCC | |
| NG_059281.1:g.5058_5067delinsATCTGACTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.8_17delinsATCTGACTCC | ENSP00000494175.1:p.His3= | |
| ENST00000335295.4:c.8_17delinsATCTGACTCC MANE Select | ENSP00000333994.3:p.His3= | |
| ENST00000380315.2:c.8_17delinsATCTGACTCC | ENSP00000369671.2:p.His3= | |
| ENST00000485743.1:n.59_68delinsATCTGACTCC | ||
| ENST00000633227.1:c.8_17delinsATCTGACTCC | ENSP00000488004.1:p.His3= | |
| NM_000518.4:c.8_17delinsATCTGACTCC | NP_000509.1:p.His3= | |
| NM_000518.5:c.8_17delinsATCTGACTCC MANE Select | NP_000509.1:p.His3= |