Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424295_23424296delinsGA , CM000676.2:g.23424295_23424296delinsGA | GRCh38 |
| NC_000014.8:g.23893504_23893505delinsGA , CM000676.1:g.23893504_23893505delinsGA | GRCh37 |
| NC_000014.7:g.22963344_22963345delinsGA | NCBI36 |
| NG_007884.1:g.16366_16367delinsTC , LRG_384:g.16366_16367delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2680-147_2680-146delinsTC MANE Select | ENSP00000347507.3:n.2680-147_2680-146delinsTC | |
| ENST00000355349.3:c.2680-147_2680-146delinsTC | ENSP00000347507.3:n.2680-147_2680-146delinsTC | |
| NM_000257.3:c.2680-147_2680-146delinsTC | NP_000248.2:n.2680-147_2680-146delinsTC | |
| XR_245686.3:n.2786-147_2786-146delinsTC | ||
| XM_017021340.1:c.2680-147_2680-146delinsTC | XP_016876829.1:n.2680-147_2680-146delinsTC | |
| NM_000257.4:c.2680-147_2680-146delinsTC MANE Select | NP_000248.2:n.2680-147_2680-146delinsTC |