Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960341_47960342delinsGT , CM000670.2:g.47960341_47960342delinsGT | GRCh38 |
| NC_000008.10:g.48872901_48872902delinsGT , CM000670.1:g.48872901_48872902delinsGT | GRCh37 |
| NC_000008.9:g.49035454_49035455delinsGT | NCBI36 |
| NG_023435.1:g.4842_4843delinsAC , LRG_162:g.4842_4843delinsAC | |
| NG_032967.1:g.5139_5140delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-15+21_-15+22delinsGT | ENSP00000430329.1:n.-15+21_-15+22delinsGT | |
| NM_005914.3:c.-804_-803delinsGT | NP_005905.2:n.-804_-803delinsGT | |
| NM_182746.2:c.-688_-687delinsGT | NP_877423.1:n.-688_-687delinsGT | |
| XM_005251234.1:c.-1050_-1049delinsGT | XP_005251291.1:n.-1050_-1049delinsGT |