Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150926352_150926353insG , CM000665.2:g.150926352_150926353insG | GRCh38 |
| NC_000003.11:g.150644139_150644140insG , CM000665.1:g.150644139_150644140insG | GRCh37 |
| NC_000003.10:g.152126829_152126830insG | NCBI36 |
| NG_009168.1:g.51647_51648insC , LRG_700:g.51647_51648insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295911.6:c.*499_*500insC | ENSP00000295911.2:n.*499_*500insC | |
| ENST00000562308.5:c.104+15229_104+15230insC | ||
| ENST00000565169.1:c.162+15229_162+15230insC | ||
| ENST00000569170.5:c.162+15229_162+15230insC | ||
| NM_052995.2:c.*499_*500insC , LRG_700t2:c.*499_*500insC | NP_443721.1:n.*499_*500insC | |
| XR_924167.1:n.2594_2595insC |