MyVariant.info:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767417_28767418insGGGGCGGGCGAGGGCGGCAAGGACGGGG , CM000676.2:g.28767417_28767418insGGGGCGGGCGAGGGCGGCAAGGACGGGG | GRCh38 |
| NC_000014.8:g.29236623_29236624insGGGGCGGGCGAGGGCGGCAAGGACGGGG , CM000676.1:g.29236623_29236624insGGGGCGGGCGAGGGCGGCAAGGACGGGG | GRCh37 |
| NC_000014.7:g.28306374_28306375insGGGGCGGGCGAGGGCGGCAAGGACGGGG | NCBI36 |
| NG_009367.1:g.5337_5338insGGGGCGGGCGAGGGCGGCAAGGACGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.138_139insGGGGCGGGCGAGGGCGGCAAGGACGGGG | ENSP00000516406.1:p.His47GlyfsTer? | |
| ENST00000313071.7:c.138_139insGGGGCGGGCGAGGGCGGCAAGGACGGGG MANE Select | ENSP00000339004.3:p.His47GlyfsTer? | |
| ENST00000313071.6:c.138_139insGGGGCGGGCGAGGGCGGCAAGGACGGGG | ENSP00000339004.3:p.His47GlyfsTer? | |
| NM_005249.4:c.138_139insGGGGCGGGCGAGGGCGGCAAGGACGGGG | NP_005240.3:p.His47GlyfsTer? | |
| NM_005249.5:c.138_139insGGGGCGGGCGAGGGCGGCAAGGACGGGG MANE Select | NP_005240.3:p.His47GlyfsTer? |