Linked Data
dbSNP Id:
rs1481708314
gnomAD v2:
1-97770906-GTTGGTGGCTGTAACGCCA-G
gnomAD v3:
1-97305350-GTTGGTGGCTGTAACGCCA-G
gnomAD v4:
1-97305350-GTTGGTGGCTGTAACGCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97305355_97305372del , CM000663.2:g.97305355_97305372del | GRCh38 |
| NC_000001.10:g.97770911_97770928del , CM000663.1:g.97770911_97770928del | GRCh37 |
| NC_000001.9:g.97543499_97543516del | NCBI36 |
| NG_008807.2:g.620692_620709del , LRG_722:g.620692_620709del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370192.8:c.2190_2207del (DPYD) MANE Select | ENSP00000359211.3:p.Gly731_Asn736del | |
| ENST00000370192.7:c.2190_2207del (DPYD) | ENSP00000359211.3:p.Gly731_Asn736del | |
| NM_000110.3:c.2190_2207del , LRG_722t1:c.2190_2207del (DPYD) | NP_000101.2:p.Gly731_Asn736del | |
| NR_046590.1:n.129-834_129-817del (DPYD-AS1) | ||
| XM_005270562.3:c.1974_1991del (DPYD) | XP_005270619.2:p.Gly659_Asn664del | |
| XM_006710397.2:c.2190_2207del (DPYD) | XP_006710460.1:p.Gly731_Asn736del | |
| XM_006710397.3:c.2190_2207del (DPYD) | XP_006710460.1:p.Gly731_Asn736del | |
| XM_017000507.1:c.2079_2096del (DPYD) | XP_016855996.1:p.Gly694_Asn699del | |
| XM_017000508.2:c.1695_1712del (DPYD) | XP_016855997.1:p.Gly566_Asn571del | |
| XM_017000509.2:c.1695_1712del (DPYD) | XP_016855998.1:p.Gly566_Asn571del | |
| XM_017000510.1:c.1695_1712del (DPYD) | XP_016855999.1:p.Gly566_Asn571del | |
| NM_000110.4:c.2190_2207del (DPYD) MANE Select | NP_000101.2:p.Gly731_Asn736del |