Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227012_5227013delinsAG , CM000673.2:g.5227012_5227013delinsAG | GRCh38 |
| NC_000011.9:g.5248242_5248243delinsAG , CM000673.1:g.5248242_5248243delinsAG | GRCh37 |
| NC_000011.8:g.5204818_5204819delinsAG | NCBI36 |
| NG_000007.3:g.70603_70604delinsCT | |
| NG_059281.1:g.5059_5060delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.9_10delinsCT | ENSP00000494175.1:p.His3= | |
| ENST00000335295.4:c.9_10delinsCT MANE Select | ENSP00000333994.3:p.His3= | |
| ENST00000380315.2:c.9_10delinsCT | ENSP00000369671.2:p.His3= | |
| ENST00000485743.1:n.60_61delinsCT | ||
| ENST00000633227.1:c.9_10delinsCT | ENSP00000488004.1:p.His3= | |
| NM_000518.4:c.9_10delinsCT | NP_000509.1:p.His3= | |
| NM_000518.5:c.9_10delinsCT MANE Select | NP_000509.1:p.His3= |