Linked Data
dbSNP Id:
rs869277704
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942215_94942223dup , CM000672.2:g.94942215_94942223dup | GRCh38 |
| NC_000010.10:g.96701972_96701980dup , CM000672.1:g.96701972_96701980dup | GRCh37 |
| NC_000010.9:g.96691962_96691970dup | NCBI36 |
| NG_008385.1:g.8558_8566dup | |
| NG_008385.2:g.9058_9066dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.355_363dup MANE Select | ENSP00000260682.6:p.Lys121_Glu122insLysTr... | |
| ENST00000643112.1:c.355_363dup | ENSP00000496202.1:p.Lys121_Glu122insLysTr... | |
| ENST00000645207.1:n.508_516dup | ||
| ENST00000260682.6:c.355_363dup | ENSP00000260682.6:p.Lys121_Glu122insLysTr... | |
| ENST00000461906.1:n.380_388dup | ||
| ENST00000473496.1:n.126_134dup | ||
| NM_000771.3:c.355_363dup | NP_000762.2:p.Lys121_Glu122insLysTrpLys | |
| NM_000771.4:c.355_363dup MANE Select | NP_000762.2:p.Lys121_Glu122insLysTrpLys |