Linked Data
ClinVar Variation Id:
955209
ClinVar RCV Id:
RCV001227809
dbSNP Id:
rs2044027998
gnomAD v4:
10-68231587-C-CGGCGCACGTGCCCGCGCACTCGGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68231589_68231612dup , CM000672.2:g.68231589_68231612dup | GRCh38 |
| NC_000010.10:g.69991346_69991369dup , CM000672.1:g.69991346_69991369dup | GRCh37 |
| NC_000010.9:g.69661352_69661375dup | NCBI36 |
| NG_031934.1:g.5503_5526dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373673.5:c.67_90dup MANE Select | ENSP00000362777.3:p.Ala30_Gly31insThrGluCysAlaGlyThrCysAla | |
| ENST00000373673.4:c.67_90dup | ENSP00000362777.3:p.Ala30_Gly31insThrGluCysAlaGlyThrCysAla | |
| NM_145178.3:c.67_90dup | NP_660161.1:p.Ala30_Gly31insThrGluCysAlaGlyThrCysAla | |
| NM_145178.4:c.67_90dup MANE Select | NP_660161.1:p.Ala30_Gly31insThrGluCysAlaGlyThrCysAla |