Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960451_47960459delinsGGTGATGCC , CM000670.2:g.47960451_47960459delinsGGTGATGCC | GRCh38 |
| NC_000008.10:g.48873011_48873019delinsGGTGATGCC , CM000670.1:g.48873011_48873019delinsGGTGATGCC | GRCh37 |
| NC_000008.9:g.49035564_49035572delinsGGTGATGCC | NCBI36 |
| NG_023435.1:g.4725_4733delinsGGCATCACC , LRG_162:g.4725_4733delinsGGCATCACC | |
| NG_032967.1:g.5249_5257delinsGGTGATGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-15+131_-15+139delinsGGTGATGCC | ENSP00000430329.1:n.-15+131_-15+139delinsGGTGATGCC | |
| NM_005914.3:c.-694_-686delinsGGTGATGCC | NP_005905.2:n.-694_-686delinsGGTGATGCC | |
| NM_182746.2:c.-578_-570delinsGGTGATGCC | NP_877423.1:n.-578_-570delinsGGTGATGCC | |
| XM_005251234.1:c.-940_-932delinsGGTGATGCC | XP_005251291.1:n.-940_-932delinsGGTGATGCC |