Linked Data
dbSNP Id:
rs1319865922
gnomAD v2:
20-39745044-TTGGCCAGA-T
gnomAD v4:
20-41116404-TTGGCCAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.41116406_41116413del , CM000682.2:g.41116406_41116413del | GRCh38 |
| NC_000020.10:g.39745046_39745053del , CM000682.1:g.39745046_39745053del | GRCh37 |
| NC_000020.9:g.39178460_39178467del | NCBI36 |
| NG_012262.1:g.92585_92592del | |
| NG_012262.2:g.92585_92592del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361337.3:c.1822+14_1822+21del (TOP1) MANE Select | ENSP00000354522.2:n.1822+14_1822+21del | |
| ENST00000680945.1:c.415+14_415+21del (TOP1) | ENSP00000504935.1:n.415+14_415+21del | |
| ENST00000681058.1:n.6608+14_6608+21del (TOP1) | ||
| ENST00000681113.1:c.*1517+14_*1517+21del (TOP1) | ENSP00000505788.1:n.*1517+14_*1517+21del | |
| ENST00000681392.1:n.3130+14_3130+21del (TOP1) | ||
| ENST00000681884.1:n.3084+14_3084+21del (TOP1) | ||
| ENST00000361337.2:c.1822+14_1822+21del (TOP1) | ENSP00000354522.2:n.1822+14_1822+21del | |
| NM_003286.2:c.1822+14_1822+21del (TOP1) | NP_003277.1:n.1822+14_1822+21del | |
| NR_109889.1:n.711-15123_711-15116del (PLCG1-AS1) | ||
| XM_011529032.1:c.1318+14_1318+21del (TOP1) | XP_011527334.1:n.1318+14_1318+21del | |
| XM_011529033.1:c.1084+14_1084+21del (TOP1) | XP_011527335.1:n.1084+14_1084+21del | |
| NM_003286.3:c.1822+14_1822+21del (TOP1) | NP_003277.1:n.1822+14_1822+21del | |
| NM_003286.4:c.1822+14_1822+21del (TOP1) MANE Select | NP_003277.1:n.1822+14_1822+21del |