Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625492_22625493delinsGG , CM000673.2:g.22625492_22625493delinsGG | GRCh38 |
| NC_000011.9:g.22647038_22647039delinsGG , CM000673.1:g.22647038_22647039delinsGG | GRCh37 |
| NC_000011.8:g.22603614_22603615delinsGG | NCBI36 |
| NG_007425.1:g.5349_5350delinsCC , LRG_527:g.5349_5350delinsCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.318_319delinsCC MANE Select | ENSP00000330875.3:p.Ala107Pro | |
| ENST00000327470.4:c.318_319delinsCC | ENSP00000330875.3:p.Ala107Pro | |
| NM_022725.3:c.318_319delinsCC , LRG_527t1:c.318_319delinsCC | NP_073562.1:p.Ala107Pro | |
| NM_022725.4:c.318_319delinsCC MANE Select | NP_073562.1:p.Ala107Pro |