Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429993_68429994insAGGAC , CM000663.2:g.68429993_68429994insAGGAC | GRCh38 |
| NC_000001.10:g.68895676_68895677insAGGAC , CM000663.1:g.68895676_68895677insAGGAC | GRCh37 |
| NC_000001.9:g.68668264_68668265insAGGAC | NCBI36 |
| NG_008472.1:g.24966_24967insGTCCT | |
| NG_008472.2:g.24966_24967insGTCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1451-67_1451-66insGTCCT MANE Select | ENSP00000262340.5:n.1451-67_1451-66insGTCCT | |
| ENST00000262340.5:c.1451-67_1451-66insGTCCT | ENSP00000262340.5:n.1451-67_1451-66insGTCCT | |
| NM_000329.2:c.1451-67_1451-66insGTCCT | NP_000320.1:n.1451-67_1451-66insGTCCT | |
| XM_017002027.1:c.1175-67_1175-66insGTCCT | XP_016857516.1:n.1175-67_1175-66insGTCCT | |
| NM_000329.3:c.1451-67_1451-66insGTCCT MANE Select | NP_000320.1:n.1451-67_1451-66insGTCCT |