Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461683_122461684insCC , CM000672.2:g.122461683_122461684insCC | GRCh38 |
| NC_000010.10:g.124221199_124221200insCC , CM000672.1:g.124221199_124221200insCC | GRCh37 |
| NC_000010.9:g.124211189_124211190insCC | NCBI36 |
| NG_011554.1:g.5159_5160insCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.31_32insCC MANE Select | ENSP00000357980.3:p.Leu11ProfsTer? | |
| ENST00000648167.1:c.154+2974_154+2975insCC | ENSP00000498033.1:n.154+2974_154+2975insCC | |
| ENST00000368984.7:c.31_32insCC | ENSP00000357980.3:p.Leu11ProfsTer? | |
| NM_002775.4:c.31_32insCC | NP_002766.1:p.Leu11ProfsTer? | |
| NM_002775.5:c.31_32insCC MANE Select | NP_002766.1:p.Leu11ProfsTer? |