Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740644_67740645insG , CM000666.2:g.67740644_67740645insG | GRCh38 |
| NC_000004.11:g.68606362_68606363insG , CM000666.1:g.68606362_68606363insG | GRCh37 |
| NC_000004.10:g.68288957_68288958insG | NCBI36 |
| NG_009293.1:g.20442_20443insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.822_823insC MANE Select | ENSP00000226413.5:p.Ser275LeufsTer19 | |
| ENST00000226413.4:c.822_823insC | ENSP00000226413.4:p.Ser275LeufsTer19 | |
| ENST00000420975.2:c.694_695insC | ENSP00000397561.2:p.Phe232SerfsTer13 | |
| NM_000406.2:c.822_823insC | NP_000397.1:p.Ser275LeufsTer19 | |
| NM_001012763.1:c.694_695insC | NP_001012781.1:p.Phe232SerfsTer13 | |
| NM_000406.3:c.822_823insC MANE Select | NP_000397.1:p.Ser275LeufsTer19 | |
| NM_001012763.2:c.694_695insC | NP_001012781.1:p.Phe232SerfsTer13 |