Linked Data
ClinVar Variation Id:
80
dbSNP Id:
rs780495201
ExAC:
10:90984929 C / CA
gnomAD v2:
10-90984929-C-CA
gnomAD v3:
10-89225172-C-CA
gnomAD v4:
10-89225172-C-CA
MyVariant Identifiers:
chr10:g.90984930dupA (hg19)
chr10:g.90984929_90984930insA (hg19)
chr10:g.89225173dupA (hg38)
chr10:g.89225172_89225173insA (hg38)
PubMed:
PMID:8146180
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89225178dup , CM000672.2:g.89225178dup | GRCh38 |
| NC_000010.10:g.90984935dup , CM000672.1:g.90984935dup | GRCh37 |
| NC_000010.9:g.90974915dup | NCBI36 |
| NG_008194.1:g.31731dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.594dup MANE Select | ENSP00000337354.5:p.Ala199CysfsTer13 | |
| ENST00000282673.5:c.594dup | ENSP00000282673.4:p.Ala199CysfsTer13 | |
| ENST00000336233.9:c.594dup | ENSP00000337354.5:p.Ala199CysfsTer13 | |
| ENST00000371837.5:c.426dup | ENSP00000360903.1:p.Ala143CysfsTer13 | |
| ENST00000428800.5:c.594dup | ENSP00000388415.1:p.Ala199CysfsTer13 | |
| ENST00000456827.5:c.246dup | ENSP00000413019.2:p.Ala83CysfsTer13 | |
| NM_000235.3:c.594dup | NP_000226.2:p.Ala199CysfsTer13 | |
| NM_001127605.2:c.594dup | NP_001121077.1:p.Ala199CysfsTer13 | |
| NM_001288979.1:c.246dup | NP_001275908.1:p.Ala83CysfsTer13 | |
| XM_024448023.1:c.594dup | XP_024303791.1:p.Ala199CysfsTer13 | |
| NM_000235.4:c.594dup MANE Select | NP_000226.2:p.Ala199CysfsTer13 | |
| NM_001127605.3:c.594dup | NP_001121077.1:p.Ala199CysfsTer13 | |
| NM_001288979.2:c.246dup | NP_001275908.1:p.Ala83CysfsTer13 |