Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135851255_135851256delinsAG , CM000664.2:g.135851255_135851256delinsAG | GRCh38 |
| NC_000002.11:g.136608825_136608826delinsAG , CM000664.1:g.136608825_136608826delinsAG | GRCh37 |
| NC_000002.10:g.136325295_136325296delinsAG | NCBI36 |
| NG_008104.2:g.8914_8915delinsCT , LRG_338:g.8914_8915delinsCT | |
| NG_008958.1:g.30186_30187delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264156.3:c.1917+146_1917+147delinsCT MANE Select | ENSP00000264156.2:n.1917+146_1917+147delinsCT | |
| ENST00000264156.2:c.1917+146_1917+147delinsCT | ENSP00000264156.2:n.1917+146_1917+147delinsCT | |
| ENST00000483902.1:n.544+146_544+147delinsCT | ||
| ENST00000492091.1:n.343+146_343+147delinsCT | ||
| NM_005915.5:c.1917+146_1917+147delinsCT | NP_005906.2:n.1917+146_1917+147delinsCT | |
| NM_005915.6:c.1917+146_1917+147delinsCT MANE Select | NP_005906.2:n.1917+146_1917+147delinsCT |