Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39244611_39244613delinsCCG , CM000684.2:g.39244611_39244613delinsCCG | GRCh38 |
| NC_000022.10:g.39640616_39640618delinsCCG , CM000684.1:g.39640616_39640618delinsCCG | GRCh37 |
| NC_000022.9:g.37970562_37970564delinsCCG | NCBI36 |
| NG_012111.1:g.5340_5342delinsCGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331163.11:c.-650_-648delinsCGG MANE Select | ENSP00000330382.6:n.-650_-648delinsCGG | |
| ENST00000331163.10:c.-650_-648delinsCGG | ENSP00000330382.6:n.-650_-648delinsCGG | |
| NM_002608.2:c.-650_-648delinsCGG | NP_002599.1:n.-650_-648delinsCGG | |
| NM_002608.3:c.-650_-648delinsCGG | NP_002599.1:n.-650_-648delinsCGG | |
| NM_002608.4:c.-650_-648delinsCGG MANE Select | NP_002599.1:n.-650_-648delinsCGG |