Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121446992_121446994dup , CM000668.2:g.121446992_121446994dup | GRCh38 |
| NC_000006.11:g.121768138_121768140dup , CM000668.1:g.121768138_121768140dup | GRCh37 |
| NC_000006.10:g.121809837_121809839dup | NCBI36 |
| NG_008308.1:g.16394_16396dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282561.4:c.145_147dup MANE Select | ENSP00000282561.3:p.Gln49_Ser50insGln | |
| ENST00000647564.1:c.145_147dup | ENSP00000497565.1:p.Gln49_Ser50insGln | |
| ENST00000649003.1:c.145_147dup | ENSP00000497283.1:p.Gln49_Ser50insGln | |
| ENST00000650427.1:c.145_147dup | ENSP00000497367.1:p.Gln49_Ser50insGln | |
| ENST00000282561.3:c.145_147dup | ENSP00000282561.3:p.Gln49_Ser50insGln | |
| NM_000165.4:c.145_147dup | NP_000156.1:p.Gln49_Ser50insGln | |
| NM_000165.5:c.145_147dup MANE Select | NP_000156.1:p.Gln49_Ser50insGln |