Linked Data
dbSNP Id:
rs1253682062
gnomAD v2:
2-234584307-GGAGA-G
gnomAD v3:
2-233675661-GGAGA-G
gnomAD v4:
2-233675661-GGAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233675664_233675667del , CM000664.2:g.233675664_233675667del | GRCh38 |
| NC_000002.11:g.234584310_234584313del , CM000664.1:g.234584310_234584313del | GRCh37 |
| NC_000002.10:g.234249049_234249052del | NCBI36 |
| NG_002601.2:g.90921_90924del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344644.10:c.855+38287_855+38290del (UGT1A10) MANE Select | ENSP00000343838.5:n.855+38287_855+38290de... | |
| ENST00000373450.5:c.855+57102_855+57105del (UGT1A8) MANE Select | ENSP00000362549.4:n.855+57102_855+57105de... | |
| ENST00000354728.5:c.855+2875_855+2878del (UGT1A9) MANE Select | ENSP00000346768.4:n.855+2875_855+2878del | |
| ENST00000344644.9:c.855+38287_855+38290del (UGT1A10) | ENSP00000343838.5:n.855+38287_855+38290de... | |
| ENST00000354728.4:c.855+2875_855+2878del (UGT1A9) | ENSP00000346768.4:n.855+2875_855+2878del | |
| ENST00000373445.1:c.855+38287_855+38290del (UGT1A10) | ENSP00000362544.1:n.855+38287_855+38290de... | |
| ENST00000373450.4:c.855+57102_855+57105del (UGT1A8) | ENSP00000362549.4:n.855+57102_855+57105de... | |
| NM_019075.2:c.855+38287_855+38290del (UGT1A10) | NP_061948.1:n.855+38287_855+38290del | |
| NM_019076.4:c.855+57102_855+57105del (UGT1A8) | NP_061949.3:n.855+57102_855+57105del | |
| NM_021027.2:c.855+2875_855+2878del (UGT1A9) | NP_066307.1:n.855+2875_855+2878del | |
| NM_021027.3:c.855+2875_855+2878del (UGT1A9) MANE Select | NP_066307.1:n.855+2875_855+2878del | |
| NM_019075.4:c.855+38287_855+38290del (UGT1A10) MANE Select | NP_061948.1:n.855+38287_855+38290del | |
| NM_019076.5:c.855+57102_855+57105del (UGT1A8) MANE Select | NP_061949.3:n.855+57102_855+57105del |