Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045790_48045791delinsTC , CM000675.2:g.48045790_48045791delinsTC | GRCh38 |
| NC_000013.10:g.48619926_48619927delinsTC , CM000675.1:g.48619926_48619927delinsTC | GRCh37 |
| NC_000013.9:g.47517927_47517928delinsTC | NCBI36 |
| NG_047021.1:g.13224_13225delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.486_487delinsTC MANE Select | ENSP00000258662.1:p.Asn162= | |
| ENST00000258662.2:c.486_487delinsTC | ENSP00000258662.1:p.Asn162= | |
| NM_018283.2:c.486_487delinsTC | NP_060753.1:p.Asn162= | |
| NM_018283.3:c.486_487delinsTC | NP_060753.1:p.Asn162= | |
| NR_136687.1:n.666_667delinsTC | ||
| NR_136688.1:n.666_667delinsTC | ||
| NM_018283.4:c.486_487delinsTC MANE Select | NP_060753.1:p.Asn162= | |
| NR_136687.2:n.507_508delinsTC | ||
| NR_136688.2:n.507_508delinsTC |