Linked Data
dbSNP Id:
rs2044028091
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231595_68231612dup , CM000672.2:g.68231595_68231612dup | GRCh38 |
| NC_000010.10:g.69991352_69991369dup , CM000672.1:g.69991352_69991369dup | GRCh37 |
| NC_000010.9:g.69661358_69661375dup | NCBI36 |
| NG_031934.1:g.5502_5519dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.66_83dup MANE Select | ENSP00000362777.3:p.Thr28_Cys29insThrGluCysAlaGlyThr | |
| ENST00000373673.4:c.66_83dup | ENSP00000362777.3:p.Thr28_Cys29insThrGluCysAlaGlyThr | |
| NM_145178.3:c.66_83dup | NP_660161.1:p.Thr28_Cys29insThrGluCysAlaGlyThr | |
| NM_145178.4:c.66_83dup MANE Select | NP_660161.1:p.Thr28_Cys29insThrGluCysAlaGlyThr |