Linked Data
dbSNP Id:
rs772866062
ExAC:
3:101476564 G / GTACACA
gnomAD v2:
3-101476564-G-GTACACA
gnomAD v3:
3-101757720-G-GTACACA
gnomAD v4:
3-101757720-G-GTACACA
MyVariant Identifiers:
chr3:g.101476564_101476565insTACACA (hg19)
chr3:g.101757720_101757721insTACACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101757721_101757726dup , CM000665.2:g.101757721_101757726dup | GRCh38 |
| NC_000003.11:g.101476565_101476570dup , CM000665.1:g.101476565_101476570dup | GRCh37 |
| NC_000003.10:g.102959255_102959260dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465011.2:c.*750_*755dup | ENSP00000419009.1:n.*750_*755dup | |
| ENST00000467655.2:c.*202_*207dup | ENSP00000418547.2:n.*202_*207dup | |
| ENST00000704365.1:c.1115_1120dup | ENSP00000515873.1:p.His373_Thr374insIleHis | |
| ENST00000704366.1:c.1013_1018dup | ENSP00000515874.1:p.His339_Thr340insIleHis | |
| ENST00000704367.1:c.926-90_926-85dup | ENSP00000515875.1:n.926-90_926-85dup | |
| ENST00000704368.1:n.1608_1613dup | ||
| ENST00000704369.1:c.629_634dup | ENSP00000515876.1:p.His211_Thr212insIleHis | |
| ENST00000704370.1:c.1109_1114dup | ENSP00000515877.1:p.His371_Thr372insIleHis | |
| ENST00000704372.1:n.1469_1474dup | ||
| ENST00000704444.1:c.899_904dup | ENSP00000515896.1:p.His301_Thr302insIleHis | |
| ENST00000704445.1:c.767_772dup | ENSP00000515897.1:p.His257_Thr258insIleHis | |
| ENST00000704446.1:c.1048+525_1048+530dup | ENSP00000515898.1:n.1048+525_1048+530dup | |
| ENST00000341893.8:c.1115_1120dup MANE Select | ENSP00000342510.3:p.His373_Thr374insIleHis | |
| ENST00000341893.7:c.1115_1120dup | ENSP00000342510.3:p.His373_Thr374insIleHis | |
| ENST00000467655.1:c.730_735dup | ENSP00000418547.1:n.730_735dup | |
| ENST00000489172.5:n.1097_1102dup | ||
| ENST00000494050.5:c.1028-90_1028-85dup | ENSP00000418185.1:n.1028-90_1028-85dup | |
| NM_001303401.1:c.1028-90_1028-85dup | NP_001290330.1:n.1028-90_1028-85dup | |
| NM_024548.3:c.1115_1120dup | NP_078824.2:p.His373_Thr374insIleHis | |
| XM_006713743.2:c.1013_1018dup | XP_006713806.1:p.His339_Thr340insIleHis | |
| XM_011513125.1:c.899_904dup | XP_011511427.1:p.His301_Thr302insIleHis | |
| XM_011513126.1:c.899_904dup | XP_011511428.1:p.His301_Thr302insIleHis | |
| XM_011513127.1:c.767_772dup | XP_011511429.1:p.His257_Thr258insIleHis | |
| XM_006713743.4:c.1013_1018dup | XP_006713806.1:p.His339_Thr340insIleHis | |
| XM_017007178.2:c.926-90_926-85dup | XP_016862667.1:n.926-90_926-85dup | |
| NM_024548.4:c.1115_1120dup MANE Select | NP_078824.2:p.His373_Thr374insIleHis | |
| NM_001303401.2:c.1028-90_1028-85dup | NP_001290330.1:n.1028-90_1028-85dup |