Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736171_153736172delinsTT , CM000685.2:g.153736171_153736172delinsTT | GRCh38 |
| NC_000023.10:g.153001625_153001626delinsTT , CM000685.1:g.153001625_153001626delinsTT | GRCh37 |
| NC_000023.9:g.152654819_152654820delinsTT | NCBI36 |
| NG_009022.2:g.16304_16305delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1141_1142delinsTT MANE Select | ENSP00000218104.3:p.Arg381Phe | |
| ENST00000218104.5:c.1141_1142delinsTT | ENSP00000218104.3:p.Arg381Phe | |
| ENST00000443684.2:n.144_145delinsTT | ||
| NM_000033.3:c.1141_1142delinsTT | NP_000024.2:p.Arg381Phe | |
| XR_938507.1:n.1557_1558delinsTT | ||
| XR_938507.2:n.1557_1558delinsTT | ||
| NM_000033.4:c.1141_1142delinsTT MANE Select | NP_000024.2:p.Arg381Phe |