Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436149_67436151delinsGCC , CM000678.2:g.67436149_67436151delinsGCC | GRCh38 |
| NC_000016.9:g.67470052_67470054delinsGCC , CM000678.1:g.67470052_67470054delinsGCC | GRCh37 |
| NC_000016.8:g.66027553_66027555delinsGCC | NCBI36 |
| NG_011482.1:g.50036_50038delinsGGC | |
| NG_016549.1:g.10017_10019delinsGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.664+7_664+9delinsGCC MANE Select | ENSP00000316786.5:n.664+7_664+9delinsGCC | |
| ENST00000326152.5:c.664+7_664+9delinsGCC | ENSP00000316786.5:n.664+7_664+9delinsGCC | |
| ENST00000567684.2:n.527+7_527+9delinsGCC | ||
| NM_000196.3:c.664+7_664+9delinsGCC | NP_000187.3:n.664+7_664+9delinsGCC | |
| NM_000196.4:c.664+7_664+9delinsGCC MANE Select | NP_000187.3:n.664+7_664+9delinsGCC |