Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23421058_23421059delinsAG , CM000676.2:g.23421058_23421059delinsAG | GRCh38 |
| NC_000014.8:g.23890267_23890268delinsAG , CM000676.1:g.23890267_23890268delinsAG | GRCh37 |
| NC_000014.7:g.22960107_22960108delinsAG | NCBI36 |
| NG_007884.1:g.19603_19604delinsCT , LRG_384:g.19603_19604delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3246-11_3246-10delinsCT MANE Select | ENSP00000347507.3:n.3246-11_3246-10delinsCT | |
| ENST00000355349.3:c.3246-11_3246-10delinsCT | ENSP00000347507.3:n.3246-11_3246-10delinsCT | |
| NM_000257.3:c.3246-11_3246-10delinsCT | NP_000248.2:n.3246-11_3246-10delinsCT | |
| XR_245686.3:n.3354-11_3354-10delinsCT | ||
| XM_017021340.1:c.3246-11_3246-10delinsCT | XP_016876829.1:n.3246-11_3246-10delinsCT | |
| NM_000257.4:c.3246-11_3246-10delinsCT MANE Select | NP_000248.2:n.3246-11_3246-10delinsCT |