Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990477_45990478insCCC , CM000683.2:g.45990477_45990478insCCC | GRCh38 |
| NC_000021.8:g.47410391_47410392insCCC , CM000683.1:g.47410391_47410392insCCC | GRCh37 |
| NC_000021.7:g.46234819_46234820insCCC | NCBI36 |
| NG_008674.1:g.13729_13730insCCC , LRG_475:g.13729_13730insCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+55_1002+56insCCC MANE Select | ENSP00000355180.3:n.1002+55_1002+56insCCC | |
| ENST00000361866.7:c.1002+55_1002+56insCCC | ENSP00000355180.3:n.1002+55_1002+56insCCC | |
| ENST00000612273.1:c.1002+55_1002+56insCCC | ENSP00000483630.1:n.1002+55_1002+56insCCC | |
| NM_001848.2:c.1002+55_1002+56insCCC , LRG_475t1:c.1002+55_1002+56insCCC | NP_001839.2:n.1002+55_1002+56insCCC | |
| NM_001848.3:c.1002+55_1002+56insCCC MANE Select | NP_001839.2:n.1002+55_1002+56insCCC |