Linked Data
ClinVar Variation Id:
372875
ClinVar RCV Id:
RCV000414644
dbSNP Id:
rs1057518041
MyVariant Identifiers:
chr3:g.178927981_178927983dupGTC (hg19)
chr3:g.179210193_179210195dupGTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179210193_179210195dup , CM000665.2:g.179210193_179210195dup | GRCh38 |
| NC_000003.11:g.178927981_178927983dup , CM000665.1:g.178927981_178927983dup | GRCh37 |
| NC_000003.10:g.180410675_180410677dup | NCBI36 |
| NG_012113.2:g.66671_66673dup , LRG_310:g.66671_66673dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263967.4:c.1259_1261dup MANE Select | ENSP00000263967.3:p.Cys420_Pro421insArg | |
| ENST00000643187.1:c.1259_1261dup | ENSP00000493507.1:p.Cys420_Pro421insArg | |
| ENST00000674534.1:n.1013_1015dup | ||
| ENST00000675467.1:n.4066_4068dup | ||
| ENST00000675786.1:c.1259_1261dup | ENSP00000502323.1:p.Cys420_Pro421insArg | |
| ENST00000263967.3:c.1259_1261dup | ENSP00000263967.3:p.Cys420_Pro421insArg | |
| NM_006218.2:c.1259_1261dup , LRG_310t1:c.1259_1261dup | NP_006209.2:p.Cys420_Pro421insArg | |
| XM_006713658.2:c.1259_1261dup | XP_006713721.1:p.Cys420_Pro421insArg | |
| XM_011512894.1:c.1259_1261dup | XP_011511196.1:p.Cys420_Pro421insArg | |
| NM_006218.3:c.1259_1261dup | NP_006209.2:p.Cys420_Pro421insArg | |
| XM_006713658.4:c.1259_1261dup | XP_006713721.1:p.Cys420_Pro421insArg | |
| XM_011512894.2:c.1259_1261dup | XP_011511196.1:p.Cys420_Pro421insArg | |
| NM_006218.4:c.1259_1261dup MANE Select | NP_006209.2:p.Cys420_Pro421insArg |