Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322676_73322677insGGT , CM000677.2:g.73322676_73322677insGGT | GRCh38 |
| NC_000015.9:g.73615017_73615018insGGT , CM000677.1:g.73615017_73615018insGGT | GRCh37 |
| NC_000015.8:g.71402070_71402071insGGT | NCBI36 |
| NG_009063.1:g.51588_51589insACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3416_3417insACC MANE Select | ENSP00000261917.3:p.Gly1139_Arg1140insPro | |
| ENST00000261917.3:c.3416_3417insACC | ENSP00000261917.3:p.Gly1139_Arg1140insPro | |
| NM_005477.2:c.3416_3417insACC | NP_005468.1:p.Gly1139_Arg1140insPro | |
| XM_011521148.1:c.2198_2199insACC | XP_011519450.1:p.Gly733_Arg734insPro | |
| XM_011521148.2:c.2198_2199insACC | XP_011519450.1:p.Gly733_Arg734insPro | |
| NM_005477.3:c.3416_3417insACC MANE Select | NP_005468.1:p.Gly1139_Arg1140insPro |