Linked Data
ClinVar Variation Id:
371384
ClinVar RCV Id:
RCV000411760
dbSNP Id:
rs1057517230
gnomAD v2:
1-97564062-GC-G
gnomAD v4:
1-97098506-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97098508del , CM000663.2:g.97098508del | GRCh38 |
| NC_000001.10:g.97564064del , CM000663.1:g.97564064del | GRCh37 |
| NC_000001.9:g.97336652del | NCBI36 |
| NG_008807.2:g.827553del , LRG_722:g.827553del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370192.8:c.2748del (DPYD) MANE Select | ENSP00000359211.3:p.Arg916SerfsTer9 | |
| ENST00000370192.7:c.2748del (DPYD) | ENSP00000359211.3:p.Arg916SerfsTer9 | |
| NM_000110.3:c.2748del , LRG_722t1:c.2748del (DPYD) | NP_000101.2:p.Arg916SerfsTer9 | |
| NR_046590.1:n.64+2522del (DPYD-AS1) | ||
| XM_005270562.3:c.2532del (DPYD) | XP_005270619.2:p.Arg844SerfsTer9 | |
| XM_017000507.1:c.2637del (DPYD) | XP_016855996.1:p.Arg879SerfsTer9 | |
| XM_017000508.2:c.2253del (DPYD) | XP_016855997.1:p.Arg751SerfsTer9 | |
| XM_017000509.2:c.2253del (DPYD) | XP_016855998.1:p.Arg751SerfsTer9 | |
| XM_017000510.1:c.2253del (DPYD) | XP_016855999.1:p.Arg751SerfsTer9 | |
| NM_000110.4:c.2748del (DPYD) MANE Select | NP_000101.2:p.Arg916SerfsTer9 |