Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420911_23420912delinsGA , CM000676.2:g.23420911_23420912delinsGA | GRCh38 |
| NC_000014.8:g.23890120_23890121delinsGA , CM000676.1:g.23890120_23890121delinsGA | GRCh37 |
| NC_000014.7:g.22959960_22959961delinsGA | NCBI36 |
| NG_007884.1:g.19750_19751delinsTC , LRG_384:g.19750_19751delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3336+46_3336+47delinsTC MANE Select | ENSP00000347507.3:n.3336+46_3336+47delinsTC | |
| ENST00000355349.3:c.3336+46_3336+47delinsTC | ENSP00000347507.3:n.3336+46_3336+47delinsTC | |
| NM_000257.3:c.3336+46_3336+47delinsTC | NP_000248.2:n.3336+46_3336+47delinsTC | |
| XR_245686.3:n.3444+46_3444+47delinsTC | ||
| XM_017021340.1:c.3336+46_3336+47delinsTC | XP_016876829.1:n.3336+46_3336+47delinsTC | |
| NM_000257.4:c.3336+46_3336+47delinsTC MANE Select | NP_000248.2:n.3336+46_3336+47delinsTC |