Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215817288_215817289insGG , CM000663.2:g.215817288_215817289insGG | GRCh38 |
| NC_000001.10:g.215990630_215990631insGG , CM000663.1:g.215990630_215990631insGG | GRCh37 |
| NC_000001.9:g.214057253_214057254insGG | NCBI36 |
| NG_009497.1:g.611108_611109insCC | |
| NG_009497.2:g.611160_611161insCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9372-94_9372-93insCC MANE Select | ENSP00000305941.3:n.9372-94_9372-93insCC | |
| ENST00000674083.1:c.9372-94_9372-93insCC | ENSP00000501296.1:n.9372-94_9372-93insCC | |
| ENST00000307340.7:c.9372-94_9372-93insCC | ENSP00000305941.3:n.9372-94_9372-93insCC | |
| NM_206933.2:c.9372-94_9372-93insCC | NP_996816.2:n.9372-94_9372-93insCC | |
| NM_206933.3:c.9372-94_9372-93insCC | NP_996816.2:n.9372-94_9372-93insCC | |
| NM_206933.4:c.9372-94_9372-93insCC MANE Select | NP_996816.3:n.9372-94_9372-93insCC |