Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373244_133373245delinsAC , CM000672.2:g.133373244_133373245delinsAC | GRCh38 |
| NC_000010.10:g.135186748_135186749delinsAC , CM000672.1:g.135186748_135186749delinsAC | GRCh37 |
| NC_000010.9:g.135036738_135036739delinsAC | NCBI36 |
| NG_042077.1:g.5160_5161delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.88+1_88+2delinsGT MANE Select | ENSP00000357535.3:n.88+1_88+2delinsGT | |
| ENST00000368547.3:c.88+1_88+2delinsGT | ENSP00000357535.3:n.88+1_88+2delinsGT | |
| NM_004092.3:c.88+1_88+2delinsGT | NP_004083.3:n.88+1_88+2delinsGT | |
| XR_002956965.1:n.151+1_151+2delinsGT | ||
| NM_004092.4:c.88+1_88+2delinsGT MANE Select | NP_004083.3:n.88+1_88+2delinsGT |