Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414421_1414423delinsCGG , CM000667.2:g.1414421_1414423delinsCGG | GRCh38 |
| NC_000005.9:g.1414536_1414538delinsCGG , CM000667.1:g.1414536_1414538delinsCGG | GRCh37 |
| NC_000005.8:g.1467536_1467538delinsCGG | NCBI36 |
| NG_015885.1:g.36006_36008delinsCCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+268_1156+270delinsCCG MANE Select | ENSP00000270349.9:n.1156+268_1156+270delinsCCG | |
| ENST00000270349.11:c.1156+268_1156+270delinsCCG | ENSP00000270349.9:n.1156+268_1156+270delinsCCG | |
| NM_001044.4:c.1156+268_1156+270delinsCCG | NP_001035.1:n.1156+268_1156+270delinsCCG | |
| NM_001044.5:c.1156+268_1156+270delinsCCG MANE Select | NP_001035.1:n.1156+268_1156+270delinsCCG |