Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63942935_63942936insGG , CM000679.2:g.63942935_63942936insGG | GRCh38 |
| NC_000017.10:g.62020295_62020296insGG , CM000679.1:g.62020295_62020296insGG | GRCh37 |
| NC_000017.9:g.59374027_59374028insGG | NCBI36 |
| NG_011699.1:g.34984_34985insCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000435607.3:c.4179_4180insCC MANE Select | ENSP00000396320.1:p.Ile1394ProfsTer? | |
| ENST00000578147.5:c.4179_4180insCC | ENSP00000463963.1:p.Ile1394ProfsTer? | |
| NM_000334.4:c.4179_4180insCC MANE Select | NP_000325.4:p.Ile1394ProfsTer? | |
| XM_005257566.3:c.4179_4180insCC | XP_005257623.1:p.Ile1394ProfsTer? |