Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665697_39665698delinsGC , CM000679.2:g.39665697_39665698delinsGC | GRCh38 |
| NC_000017.10:g.37821950_37821951delinsGC , CM000679.1:g.37821950_37821951delinsGC | GRCh37 |
| NC_000017.9:g.35075476_35075477delinsGC | NCBI36 |
| NG_008892.1:g.5352_5353delinsGC , LRG_210:g.5352_5353delinsGC | |
| NG_042278.1:g.2717_2718delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.111-19_111-18delinsGC MANE Select | ENSP00000312624.2:n.111-19_111-18delinsGC | |
| ENST00000309889.2:c.111-19_111-18delinsGC | ENSP00000312624.2:n.111-19_111-18delinsGC | |
| ENST00000578283.1:c.111-19_111-18delinsGC | ENSP00000462787.1:n.111-19_111-18delinsGC | |
| NM_003673.3:c.111-19_111-18delinsGC , LRG_210t1:c.111-19_111-18delinsGC | NP_003664.1:n.111-19_111-18delinsGC | |
| NM_003673.4:c.111-19_111-18delinsGC MANE Select | NP_003664.1:n.111-19_111-18delinsGC |