Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233633_55233634insCACGG , CM000667.2:g.55233633_55233634insCACGG | GRCh38 |
| NC_000005.9:g.54529461_54529462insCACGG , CM000667.1:g.54529461_54529462insCACGG | GRCh37 |
| NC_000005.8:g.54565218_54565219insCACGG | NCBI36 |
| NG_034201.1:g.5084_5085insCCGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.4:c.-111_-110insCCGTG | ENSP00000282572.4:n.-111_-110insCCGTG | |
| NM_021147.4:c.-111_-110insCCGTG | NP_066970.3:n.-111_-110insCCGTG | |
| NR_125346.1:n.84_85insCCGTG | ||
| NR_125347.1:n.84_85insCCGTG |