Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44118606_44118607insACGCCGG , CM000682.2:g.44118606_44118607insACGCCGG | GRCh38 |
| NC_000020.10:g.42747246_42747247insACGCCGG , CM000682.1:g.42747246_42747247insACGCCGG | GRCh37 |
| NC_000020.9:g.42180660_42180661insACGCCGG | NCBI36 |
| NG_031867.1:g.73974_73975insGGCGTCC , LRG_394:g.73974_73975insGGCGTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.1188_1189insGGCGTCC MANE Select | ENSP00000362071.3:p.Lys397GlyfsTer5 | |
| ENST00000372980.3:c.1188_1189insGGCGTCC | ENSP00000362071.3:p.Lys397GlyfsTer5 | |
| NM_020433.4:c.1188_1189insGGCGTCC , LRG_394t1:c.1188_1189insGGCGTCC | NP_065166.2:p.Lys397GlyfsTer5 | |
| XM_006723832.2:c.1188_1189insGGCGTCC | XP_006723895.1:p.Lys397GlyfsTer5 | |
| NM_020433.5:c.1188_1189insGGCGTCC MANE Select | NP_065166.2:p.Lys397GlyfsTer5 |