Linked Data
dbSNP Id:
rs1322703273
gnomAD v2:
1-45806363-TGAG-T
gnomAD v3:
1-45340691-TGAG-T
gnomAD v4:
1-45340691-TGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45340692_45340694del , CM000663.2:g.45340692_45340694del | GRCh38 |
| NC_000001.10:g.45806364_45806366del , CM000663.1:g.45806364_45806366del | GRCh37 |
| NC_000001.9:g.45578951_45578953del | NCBI36 |
| NG_008189.1:g.4777_4779del , LRG_220:g.4777_4779del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372090.6:c.53-381_53-379del (TOE1) MANE Select | ENSP00000361162.5:n.53-381_53-379del | |
| ENST00000671898.1:c.541-6183_541-6181del | ENSP00000499896.1:n.541-6183_541-6181del | |
| ENST00000672011.1:c.-440_-438del (MUTYH) | ENSP00000500418.1:n.-440_-438del | |
| ENST00000372090.5:c.53-381_53-379del (TOE1) | ENSP00000361162.5:n.53-381_53-379del | |
| ENST00000471337.5:n.131-381_131-379del (TOE1) | ||
| ENST00000477731.5:n.271+370_271+372del (TOE1) | ||
| ENST00000495703.5:n.322+150_322+152del (TOE1) | ||
| NM_025077.3:c.53-381_53-379del (TOE1) | NP_079353.3:n.53-381_53-379del | |
| XM_005270412.2:c.70+370_70+372del (TOE1) | XP_005270469.1:n.70+370_70+372del | |
| XM_005270413.3:c.-87+150_-87+152del (TOE1) | XP_005270470.1:n.-87+150_-87+152del | |
| XM_011540569.1:c.-232-381_-232-379del (TOE1) | XP_011538871.1:n.-232-381_-232-379del | |
| XR_246230.2:n.330-381_330-379del (TOE1) | ||
| XR_426587.2:n.149+370_149+372del (TOE1) | ||
| XR_946532.1:n.149+370_149+372del (TOE1) | ||
| XM_005270412.4:c.70+370_70+372del (TOE1) | XP_005270469.1:n.70+370_70+372del | |
| XM_005270413.5:c.-87+150_-87+152del (TOE1) | XP_005270470.1:n.-87+150_-87+152del | |
| XM_011540569.3:c.-232-381_-232-379del (TOE1) | XP_011538871.1:n.-232-381_-232-379del | |
| XM_024452837.1:c.-87+150_-87+152del (TOE1) | XP_024308605.1:n.-87+150_-87+152del | |
| XR_001736951.2:n.240-381_240-379del (TOE1) | ||
| XR_002959287.1:n.555-381_555-379del (TOE1) | ||
| XR_246230.4:n.240-381_240-379del (TOE1) | ||
| XR_426587.4:n.149+370_149+372del (TOE1) | ||
| XR_946532.3:n.149+370_149+372del (TOE1) | ||
| NM_025077.4:c.53-381_53-379del (TOE1) MANE Select | NP_079353.3:n.53-381_53-379del |