Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960281_47960282delinsTC , CM000670.2:g.47960281_47960282delinsTC | GRCh38 |
| NC_000008.10:g.48872841_48872842delinsTC , CM000670.1:g.48872841_48872842delinsTC | GRCh37 |
| NC_000008.9:g.49035394_49035395delinsTC | NCBI36 |
| NG_023435.1:g.4902_4903delinsGA , LRG_162:g.4902_4903delinsGA | |
| NG_032967.1:g.5079_5080delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-54_-53delinsTC | ENSP00000430329.1:n.-54_-53delinsTC | |
| NM_005914.3:c.-864_-863delinsTC | NP_005905.2:n.-864_-863delinsTC | |
| NM_182746.2:c.-748_-747delinsTC | NP_877423.1:n.-748_-747delinsTC | |
| XM_005251234.1:c.-1110_-1109delinsTC | XP_005251291.1:n.-1110_-1109delinsTC |