Linked Data
ClinVar Variation Id:
426234
ClinVar RCV Id:
RCV000489734
dbSNP Id:
rs1085307515
gnomAD v4:
6-30916186-G-GCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30916186_30916187insCCC , CM000668.2:g.30916186_30916187insCCC | GRCh38 |
| NC_000006.11:g.30883963_30883964insCCC , CM000668.1:g.30883963_30883964insCCC | GRCh37 |
| NC_000006.10:g.30991942_30991943insCCC | NCBI36 |
| NG_034224.1:g.6979_6980insCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.608_609insCCC | ENSP00000441000.2:p.Gly203_Val204insPro | |
| ENST00000672801.1:c.608_609insCCC | ENSP00000500615.1:p.Gly203_Val204insPro | |
| ENST00000676266.1:c.608_609insCCC MANE Select | ENSP00000502585.1:p.Gly203_Val204insPro | |
| ENST00000321897.9:c.608_609insCCC | ENSP00000316092.5:p.Gly203_Val204insPro | |
| ENST00000428017.5:c.608_609insCCC | ENSP00000403749.1:p.Gly203_Val204insPro | |
| ENST00000467717.5:n.486_487insCCC | ||
| ENST00000477288.5:n.3196_3197insCCC | ||
| ENST00000541562.5:c.698_699insCCC | ENSP00000441000.1:p.Gly233_Val234insPro | |
| ENST00000542001.5:c.608_609insCCC | ENSP00000438200.2:p.Gly203_Val204insPro | |
| ENST00000625423.2:c.188_189insCCC | ENSP00000485818.1:p.Gly63_Val64insPro | |
| NM_001167733.2:c.188_189insCCC | NP_001161205.1:p.Gly63_Val64insPro | |
| NM_001167734.1:c.698_699insCCC | NP_001161206.1:p.Gly233_Val234insPro | |
| NM_020442.5:c.608_609insCCC | NP_065175.4:p.Gly203_Val204insPro | |
| NM_001167733.3:c.188_189insCCC | NP_001161205.1:p.Gly63_Val64insPro | |
| NM_001167734.2:c.698_699insCCC | NP_001161206.1:p.Gly233_Val234insPro | |
| NM_020442.6:c.608_609insCCC MANE Select | NP_065175.4:p.Gly203_Val204insPro |