Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133366146_133366147delinsTC , CM000672.2:g.133366146_133366147delinsTC | GRCh38 |
| NC_000010.10:g.135179650_135179651delinsTC , CM000672.1:g.135179650_135179651delinsTC | GRCh37 |
| NC_000010.9:g.135029640_135029641delinsTC | NCBI36 |
| NG_042077.1:g.12258_12259delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.620-52_620-51delinsGA MANE Select | ENSP00000357535.3:n.620-52_620-51delinsGA | |
| ENST00000368547.3:c.620-52_620-51delinsGA | ENSP00000357535.3:n.620-52_620-51delinsGA | |
| NM_004092.3:c.620-52_620-51delinsGA | NP_004083.3:n.620-52_620-51delinsGA | |
| XR_002956965.1:n.1424_1425delinsGA | ||
| NM_004092.4:c.620-52_620-51delinsGA MANE Select | NP_004083.3:n.620-52_620-51delinsGA |