Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135851048_135851051delinsAAGG , CM000664.2:g.135851048_135851051delinsAAGG | GRCh38 |
| NC_000002.11:g.136608618_136608621delinsAAGG , CM000664.1:g.136608618_136608621delinsAAGG | GRCh37 |
| NC_000002.10:g.136325088_136325091delinsAAGG | NCBI36 |
| NG_008104.2:g.9119_9122delinsCCTT , LRG_338:g.9119_9122delinsCCTT | |
| NG_008958.1:g.30391_30394delinsCCTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264156.3:c.1917+351_1917+354delinsCCTT MANE Select | ENSP00000264156.2:n.1917+351_1917+354deli... | |
| ENST00000264156.2:c.1917+351_1917+354delinsCCTT | ENSP00000264156.2:n.1917+351_1917+354deli... | |
| ENST00000483902.1:n.544+351_544+354delinsCCTT | ||
| ENST00000492091.1:n.343+351_343+354delinsCCTT | ||
| NM_005915.5:c.1917+351_1917+354delinsCCTT | NP_005906.2:n.1917+351_1917+354delinsCCTT... | |
| NM_005915.6:c.1917+351_1917+354delinsCCTT MANE Select | NP_005906.2:n.1917+351_1917+354delinsCCTT... |