Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117043_19117044insGCCGCCG , CM000669.2:g.19117043_19117044insGCCGCCG | GRCh38 |
| NC_000007.13:g.19156666_19156667insGCCGCCG , CM000669.1:g.19156666_19156667insGCCGCCG | GRCh37 |
| NC_000007.12:g.19123191_19123192insGCCGCCG | NCBI36 |
| NG_008114.1:g.5630_5631insGGCGGCC | |
| NG_008114.2:g.5630_5631insGGCGGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.279_280insGGCGGCC MANE Select | ENSP00000242261.5:p.Ser94GlyfsTer? | |
| ENST00000242261.5:c.279_280insGGCGGCC | ENSP00000242261.5:p.Ser94GlyfsTer? | |
| ENST00000354571.5:c.76_77insGGCGGCC | ||
| NM_000474.3:c.279_280insGGCGGCC | NP_000465.1:p.Ser94GlyfsTer? | |
| XM_011515496.1:c.279_280insGGCGGCC | XP_011513798.1:p.Ser94GlyfsTer? | |
| NR_149001.1:n.630_631insGGCGGCC | ||
| NM_000474.4:c.279_280insGGCGGCC MANE Select | NP_000465.1:p.Ser94GlyfsTer? | |
| NR_149001.2:n.594_595insGGCGGCC |