Linked Data
dbSNP Id:
rs1560371908
gnomAD v2:
3-193360654-G-GTAAAA
gnomAD v4:
3-193642865-G-GTAAAA
MyVariant Identifiers:
chr3:g.193360654_193360655insTAAAA (hg19)
chr3:g.193642865_193642866insTAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193642865_193642866insTAAAA , CM000665.2:g.193642865_193642866insTAAAA | GRCh38 |
| NC_000003.11:g.193360654_193360655insTAAAA , CM000665.1:g.193360654_193360655insTAAAA | GRCh37 |
| NC_000003.10:g.194843348_194843349insTAAAA | NCBI36 |
| NG_011605.1:g.54722_54723insTAAAA , LRG_337:g.54722_54723insTAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1230+20_1230+21insTAAAA MANE Select | ENSP00000355324.2:n.1230+20_1230+21insTAAAA | |
| ENST00000361828.7:c.1065+20_1065+21insTAAAA | ENSP00000354429.3:n.1065+20_1065+21insTAAAA | |
| ENST00000361908.8:c.1176+20_1176+21insTAAAA | ENSP00000354681.3:n.1176+20_1176+21insTAAAA | |
| ENST00000392436.7:c.1065+20_1065+21insTAAAA | ENSP00000376231.3:n.1065+20_1065+21insTAAAA | |
| ENST00000392437.6:c.1119+20_1119+21insTAAAA | ENSP00000376232.2:n.1119+20_1119+21insTAAAA | |
| ENST00000642289.1:c.1080-508_1080-507insTAAAA | ||
| ENST00000642445.1:c.1065+20_1065+21insTAAAA | ENSP00000495535.1:n.1065+20_1065+21insTAAAA | |
| ENST00000642593.1:c.1065+20_1065+21insTAAAA | ENSP00000494273.1:n.1065+20_1065+21insTAAAA | |
| ENST00000643329.1:c.747+20_747+21insTAAAA | ENSP00000493673.1:n.747+20_747+21insTAAAA | |
| ENST00000643737.1:c.*1146+20_*1146+21insTAAAA | ENSP00000494210.1:n.*1146+20_*1146+21insTAAAA | |
| ENST00000644595.1:c.1065+20_1065+21insTAAAA | ENSP00000494121.1:n.1065+20_1065+21insTAAAA | |
| ENST00000644629.1:c.725+20_725+21insTAAAA | ||
| ENST00000644841.1:c.693+20_693+21insTAAAA | ENSP00000493988.1:n.693+20_693+21insTAAAA | |
| ENST00000644959.1:c.1034+20_1034+21insTAAAA | ||
| ENST00000645553.1:c.1080+20_1080+21insTAAAA | ENSP00000494725.1:n.1080+20_1080+21insTAAAA | |
| ENST00000646085.1:c.*543+20_*543+21insTAAAA | ENSP00000494509.1:n.*543+20_*543+21insTAAAA | |
| ENST00000646277.1:c.1230+20_1230+21insTAAAA | ENSP00000495289.1:n.1230+20_1230+21insTAAAA | |
| ENST00000646544.1:c.128+20_128+21insTAAAA | ||
| ENST00000646699.1:c.1080-508_1080-507insTAAAA | ||
| ENST00000646793.1:c.957+20_957+21insTAAAA | ENSP00000494512.1:n.957+20_957+21insTAAAA | |
| ENST00000361150.6:c.1068+20_1068+21insTAAAA | ENSP00000354781.2:n.1068+20_1068+21insTAAAA | |
| ENST00000361510.6:c.1230+20_1230+21insTAAAA | ENSP00000355324.2:n.1230+20_1230+21insTAAAA | |
| ENST00000361715.6:c.1122+20_1122+21insTAAAA | ENSP00000355311.2:n.1122+20_1122+21insTAAAA | |
| ENST00000361828.6:c.1119+20_1119+21insTAAAA | ENSP00000354429.2:n.1119+20_1119+21insTAAAA | |
| ENST00000361908.7:c.1176+20_1176+21insTAAAA | ENSP00000354681.3:n.1176+20_1176+21insTAAAA | |
| ENST00000392438.7:c.1065+20_1065+21insTAAAA | ENSP00000376233.3:n.1065+20_1065+21insTAAAA | |
| ENST00000475899.1:n.261+20_261+21insTAAAA | ||
| ENST00000497189.5:n.551+20_551+21insTAAAA | ||
| NM_015560.2:c.1065+20_1065+21insTAAAA , LRG_337t1:c.1065+20_1065+21insTAAAA | NP_056375.2:n.1065+20_1065+21insTAAAA | |
| NM_130831.2:c.957+20_957+21insTAAAA | NP_570844.1:n.957+20_957+21insTAAAA | |
| NM_130832.2:c.1011+20_1011+21insTAAAA | NP_570845.1:n.1011+20_1011+21insTAAAA | |
| NM_130833.2:c.1068+20_1068+21insTAAAA | NP_570846.1:n.1068+20_1068+21insTAAAA | |
| NM_130834.2:c.1119+20_1119+21insTAAAA | NP_570847.2:n.1119+20_1119+21insTAAAA | |
| NM_130835.2:c.1122+20_1122+21insTAAAA | NP_570848.1:n.1122+20_1122+21insTAAAA | |
| NM_130836.2:c.1176+20_1176+21insTAAAA | NP_570849.2:n.1176+20_1176+21insTAAAA | |
| NM_130837.2:c.1230+20_1230+21insTAAAA , LRG_337t2:c.1230+20_1230+21insTAAAA | NP_570850.2:n.1230+20_1230+21insTAAAA | |
| XM_011512863.1:c.1230+20_1230+21insTAAAA | XP_011511165.1:n.1230+20_1230+21insTAAAA | |
| XM_011512864.1:c.1176+20_1176+21insTAAAA | XP_011511166.1:n.1176+20_1176+21insTAAAA | |
| XM_011512865.1:c.1119+20_1119+21insTAAAA | XP_011511167.1:n.1119+20_1119+21insTAAAA | |
| XM_011512866.1:c.1068+20_1068+21insTAAAA | XP_011511168.1:n.1068+20_1068+21insTAAAA | |
| XM_011512867.1:c.1065+20_1065+21insTAAAA | XP_011511169.1:n.1065+20_1065+21insTAAAA | |
| XM_011512868.1:c.957+20_957+21insTAAAA | XP_011511170.1:n.957+20_957+21insTAAAA | |
| XM_011512869.1:c.1230+20_1230+21insTAAAA | XP_011511171.1:n.1230+20_1230+21insTAAAA | |
| NM_001354663.1:c.696+20_696+21insTAAAA | NP_001341592.1:n.696+20_696+21insTAAAA | |
| NM_001354664.1:c.693+20_693+21insTAAAA | NP_001341593.1:n.693+20_693+21insTAAAA | |
| XR_001740158.2:n.1459+20_1459+21insTAAAA | ||
| XR_001740159.2:n.1294+20_1294+21insTAAAA | ||
| NM_001354663.2:c.696+20_696+21insTAAAA | NP_001341592.1:n.696+20_696+21insTAAAA | |
| NM_001354664.2:c.693+20_693+21insTAAAA | NP_001341593.1:n.693+20_693+21insTAAAA | |
| NM_130831.3:c.957+20_957+21insTAAAA | NP_570844.1:n.957+20_957+21insTAAAA | |
| NM_130832.3:c.1011+20_1011+21insTAAAA | NP_570845.1:n.1011+20_1011+21insTAAAA | |
| NM_130834.3:c.1119+20_1119+21insTAAAA | NP_570847.2:n.1119+20_1119+21insTAAAA | |
| NM_130836.3:c.1176+20_1176+21insTAAAA | NP_570849.2:n.1176+20_1176+21insTAAAA | |
| NM_015560.3:c.1065+20_1065+21insTAAAA | NP_056375.2:n.1065+20_1065+21insTAAAA | |
| NM_130833.3:c.1068+20_1068+21insTAAAA | NP_570846.1:n.1068+20_1068+21insTAAAA | |
| NM_130835.3:c.1122+20_1122+21insTAAAA | NP_570848.1:n.1122+20_1122+21insTAAAA | |
| NM_130837.3:c.1230+20_1230+21insTAAAA MANE Select | NP_570850.2:n.1230+20_1230+21insTAAAA |