Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736165_153736166insC , CM000685.2:g.153736165_153736166insC | GRCh38 |
| NC_000023.10:g.153001619_153001620insC , CM000685.1:g.153001619_153001620insC | GRCh37 |
| NC_000023.9:g.152654813_152654814insC | NCBI36 |
| NG_009022.2:g.16298_16299insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1135_1136insC MANE Select | ENSP00000218104.3:p.Ser379ThrfsTer22 | |
| ENST00000218104.5:c.1135_1136insC | ENSP00000218104.3:p.Ser379ThrfsTer22 | |
| ENST00000443684.2:n.138_139insC | ||
| NM_000033.3:c.1135_1136insC | NP_000024.2:p.Ser379ThrfsTer22 | |
| XR_938507.1:n.1551_1552insC | ||
| XR_938507.2:n.1551_1552insC | ||
| NM_000033.4:c.1135_1136insC MANE Select | NP_000024.2:p.Ser379ThrfsTer22 |