Linked Data
ClinVar Variation Id:
370465
ClinVar RCV Id:
RCV000409891
dbSNP Id:
rs1057516510
MyVariant Identifiers:
chr1:g.97700512_97700515delinsGC (hg19)
chr1:g.97234956_97234959delinsGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97234956_97234959delinsGC , CM000663.2:g.97234956_97234959delinsGC | GRCh38 |
| NC_000001.10:g.97700512_97700515delinsGC , CM000663.1:g.97700512_97700515delinsGC | GRCh37 |
| NC_000001.9:g.97473100_97473103delinsGC | NCBI36 |
| NG_008807.2:g.691101_691104delinsGC , LRG_722:g.691101_691104delinsGC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370192.8:c.2335_2338delinsGC (DPYD) MANE Select | ENSP00000359211.3:p.Thr779AlafsTer18 | |
| ENST00000370192.7:c.2335_2338delinsGC (DPYD) | ENSP00000359211.3:p.Thr779AlafsTer18 | |
| NM_000110.3:c.2335_2338delinsGC , LRG_722t1:c.2335_2338delinsGC (DPYD) | NP_000101.2:p.Thr779AlafsTer18 | |
| NR_046590.1:n.65-30458_65-30455delinsGC (DPYD-AS1) | ||
| XM_005270562.3:c.2119_2122delinsGC (DPYD) | XP_005270619.2:p.Thr707AlafsTer18 | |
| XM_006710397.2:c.2335_2338delinsGC (DPYD) | XP_006710460.1:p.Thr779AlafsTer18 | |
| XM_006710397.3:c.2335_2338delinsGC (DPYD) | XP_006710460.1:p.Thr779AlafsTer18 | |
| XM_017000507.1:c.2224_2227delinsGC (DPYD) | XP_016855996.1:p.Thr742AlafsTer18 | |
| XM_017000508.2:c.1840_1843delinsGC (DPYD) | XP_016855997.1:p.Thr614AlafsTer18 | |
| XM_017000509.2:c.1840_1843delinsGC (DPYD) | XP_016855998.1:p.Thr614AlafsTer18 | |
| XM_017000510.1:c.1840_1843delinsGC (DPYD) | XP_016855999.1:p.Thr614AlafsTer18 | |
| NM_000110.4:c.2335_2338delinsGC (DPYD) MANE Select | NP_000101.2:p.Thr779AlafsTer18 |