Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135851029_135851032delinsCATT , CM000664.2:g.135851029_135851032delinsCATT | GRCh38 |
| NC_000002.11:g.136608599_136608602delinsCATT , CM000664.1:g.136608599_136608602delinsCATT | GRCh37 |
| NC_000002.10:g.136325069_136325072delinsCATT | NCBI36 |
| NG_008104.2:g.9138_9141delinsAATG , LRG_338:g.9138_9141delinsAATG | |
| NG_008958.1:g.30410_30413delinsAATG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264156.3:c.1917+370_1917+373delinsAATG MANE Select | ENSP00000264156.2:n.1917+370_1917+373deli... | |
| ENST00000264156.2:c.1917+370_1917+373delinsAATG | ENSP00000264156.2:n.1917+370_1917+373deli... | |
| ENST00000483902.1:n.544+370_544+373delinsAATG | ||
| ENST00000492091.1:n.343+370_343+373delinsAATG | ||
| NM_005915.5:c.1917+370_1917+373delinsAATG | NP_005906.2:n.1917+370_1917+373delinsAATG... | |
| NM_005915.6:c.1917+370_1917+373delinsAATG MANE Select | NP_005906.2:n.1917+370_1917+373delinsAATG... |