Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27085115_27085116delinsAC , CM000664.2:g.27085115_27085116delinsAC | GRCh38 |
| NC_000002.11:g.27307983_27307984delinsAC , CM000664.1:g.27307983_27307984delinsAC | GRCh37 |
| NC_000002.10:g.27161487_27161488delinsAC | NCBI36 |
| NG_012199.1:g.3373_3374delinsAC | |
| NG_046849.1:g.11549_11550delinsAC | |
| NG_012199.2:g.3373_3374delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380320.9:c.2576-45_2576-44delinsAC MANE Select | ENSP00000369677.4:n.2576-45_2576-44delinsAC | |
| ENST00000380320.8:c.2576-45_2576-44delinsAC | ENSP00000369677.4:n.2576-45_2576-44delinsAC | |
| ENST00000433140.1:c.568-45_568-44delinsAC | ||
| NM_007046.3:c.2576-45_2576-44delinsAC | NP_008977.1:n.2576-45_2576-44delinsAC | |
| XM_006711928.2:c.2575+107_2575+108delinsAC | XP_006711991.1:n.2575+107_2575+108delinsAC | |
| NM_007046.4:c.2576-45_2576-44delinsAC MANE Select | NP_008977.1:n.2576-45_2576-44delinsAC |