Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23419652_23419657delinsGGGGAA , CM000676.2:g.23419652_23419657delinsGGGGAA | GRCh38 |
| NC_000014.8:g.23888861_23888866delinsGGGGAA , CM000676.1:g.23888861_23888866delinsGGGGAA | GRCh37 |
| NC_000014.7:g.22958701_22958706delinsGGGGAA | NCBI36 |
| NG_007884.1:g.21005_21010delinsTTCCCC , LRG_384:g.21005_21010delinsTTCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3727-48_3727-43delinsTTCCCC MANE Select | ENSP00000347507.3:n.3727-48_3727-43delinsTTCCCC | |
| ENST00000355349.3:c.3727-48_3727-43delinsTTCCCC | ENSP00000347507.3:n.3727-48_3727-43delinsTTCCCC | |
| NM_000257.3:c.3727-48_3727-43delinsTTCCCC | NP_000248.2:n.3727-48_3727-43delinsTTCCCC | |
| XM_017021340.1:c.3727-48_3727-43delinsTTCCCC | XP_016876829.1:n.3727-48_3727-43delinsTTCCCC | |
| NM_000257.4:c.3727-48_3727-43delinsTTCCCC MANE Select | NP_000248.2:n.3727-48_3727-43delinsTTCCCC |