Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767514_28767515insAGCAGCAGCAG , CM000676.2:g.28767514_28767515insAGCAGCAGCAG | GRCh38 |
| NC_000014.8:g.29236720_29236721insAGCAGCAGCAG , CM000676.1:g.29236720_29236721insAGCAGCAGCAG | GRCh37 |
| NC_000014.7:g.28306471_28306472insAGCAGCAGCAG | NCBI36 |
| NG_009367.1:g.5434_5435insAGCAGCAGCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.235_236insAGCAGCAGCAG | ENSP00000516406.1:p.Pro79GlnfsTer? | |
| ENST00000313071.7:c.235_236insAGCAGCAGCAG MANE Select | ENSP00000339004.3:p.Pro79GlnfsTer? | |
| ENST00000313071.6:c.235_236insAGCAGCAGCAG | ENSP00000339004.3:p.Pro79GlnfsTer? | |
| NM_005249.4:c.235_236insAGCAGCAGCAG | NP_005240.3:p.Pro79GlnfsTer? | |
| NM_005249.5:c.235_236insAGCAGCAGCAG MANE Select | NP_005240.3:p.Pro79GlnfsTer? |