Linked Data
dbSNP Id:
rs1421425628
gnomAD v2:
3-193360655-G-GTACACACATCTAAAA
gnomAD v4:
3-193642866-G-GTACACACATCTAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193642867_193642868insACACACATCTAAAAT , CM000665.2:g.193642867_193642868insACACACATCTAAAAT | GRCh38 |
| NC_000003.11:g.193360656_193360657insACACACATCTAAAAT , CM000665.1:g.193360656_193360657insACACACATCTAAAAT | GRCh37 |
| NC_000003.10:g.194843350_194843351insACACACATCTAAAAT | NCBI36 |
| NG_011605.1:g.54724_54725insACACACATCTAAAAT , LRG_337:g.54724_54725insACACACATCTAAAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1230+22_1230+23insACACACATCTAAAAT MANE Select | ENSP00000355324.2:n.1230+22_1230+23insACACACATCTAAAAT | |
| ENST00000361828.7:c.1065+22_1065+23insACACACATCTAAAAT | ENSP00000354429.3:n.1065+22_1065+23insACACACATCTAAAAT | |
| ENST00000361908.8:c.1176+22_1176+23insACACACATCTAAAAT | ENSP00000354681.3:n.1176+22_1176+23insACACACATCTAAAAT | |
| ENST00000392436.7:c.1065+22_1065+23insACACACATCTAAAAT | ENSP00000376231.3:n.1065+22_1065+23insACACACATCTAAAAT | |
| ENST00000392437.6:c.1119+22_1119+23insACACACATCTAAAAT | ENSP00000376232.2:n.1119+22_1119+23insACACACATCTAAAAT | |
| ENST00000642289.1:c.1080-506_1080-505insACACACATCTAAAAT | ||
| ENST00000642445.1:c.1065+22_1065+23insACACACATCTAAAAT | ENSP00000495535.1:n.1065+22_1065+23insACACACATCTAAAAT | |
| ENST00000642593.1:c.1065+22_1065+23insACACACATCTAAAAT | ENSP00000494273.1:n.1065+22_1065+23insACACACATCTAAAAT | |
| ENST00000643329.1:c.747+22_747+23insACACACATCTAAAAT | ENSP00000493673.1:n.747+22_747+23insACACACATCTAAAAT | |
| ENST00000643737.1:c.*1146+22_*1146+23insACACACATCTAAAAT | ENSP00000494210.1:n.*1146+22_*1146+23insACACACATCTAAAAT | |
| ENST00000644595.1:c.1065+22_1065+23insACACACATCTAAAAT | ENSP00000494121.1:n.1065+22_1065+23insACACACATCTAAAAT | |
| ENST00000644629.1:c.725+22_725+23insACACACATCTAAAAT | ||
| ENST00000644841.1:c.693+22_693+23insACACACATCTAAAAT | ENSP00000493988.1:n.693+22_693+23insACACACATCTAAAAT | |
| ENST00000644959.1:c.1034+22_1034+23insACACACATCTAAAAT | ||
| ENST00000645553.1:c.1080+22_1080+23insACACACATCTAAAAT | ENSP00000494725.1:n.1080+22_1080+23insACACACATCTAAAAT | |
| ENST00000646085.1:c.*543+22_*543+23insACACACATCTAAAAT | ENSP00000494509.1:n.*543+22_*543+23insACACACATCTAAAAT | |
| ENST00000646277.1:c.1230+22_1230+23insACACACATCTAAAAT | ENSP00000495289.1:n.1230+22_1230+23insACACACATCTAAAAT | |
| ENST00000646544.1:c.128+22_128+23insACACACATCTAAAAT | ||
| ENST00000646699.1:c.1080-506_1080-505insACACACATCTAAAAT | ||
| ENST00000646793.1:c.957+22_957+23insACACACATCTAAAAT | ENSP00000494512.1:n.957+22_957+23insACACACATCTAAAAT | |
| ENST00000361150.6:c.1068+22_1068+23insACACACATCTAAAAT | ENSP00000354781.2:n.1068+22_1068+23insACACACATCTAAAAT | |
| ENST00000361510.6:c.1230+22_1230+23insACACACATCTAAAAT | ENSP00000355324.2:n.1230+22_1230+23insACACACATCTAAAAT | |
| ENST00000361715.6:c.1122+22_1122+23insACACACATCTAAAAT | ENSP00000355311.2:n.1122+22_1122+23insACACACATCTAAAAT | |
| ENST00000361828.6:c.1119+22_1119+23insACACACATCTAAAAT | ENSP00000354429.2:n.1119+22_1119+23insACACACATCTAAAAT | |
| ENST00000361908.7:c.1176+22_1176+23insACACACATCTAAAAT | ENSP00000354681.3:n.1176+22_1176+23insACACACATCTAAAAT | |
| ENST00000392438.7:c.1065+22_1065+23insACACACATCTAAAAT | ENSP00000376233.3:n.1065+22_1065+23insACACACATCTAAAAT | |
| ENST00000475899.1:n.261+22_261+23insACACACATCTAAAAT | ||
| ENST00000497189.5:n.551+22_551+23insACACACATCTAAAAT | ||
| NM_015560.2:c.1065+22_1065+23insACACACATCTAAAAT , LRG_337t1:c.1065+22_1065+23insACACACATCTAAAAT | NP_056375.2:n.1065+22_1065+23insACACACATCTAAAAT | |
| NM_130831.2:c.957+22_957+23insACACACATCTAAAAT | NP_570844.1:n.957+22_957+23insACACACATCTAAAAT | |
| NM_130832.2:c.1011+22_1011+23insACACACATCTAAAAT | NP_570845.1:n.1011+22_1011+23insACACACATCTAAAAT | |
| NM_130833.2:c.1068+22_1068+23insACACACATCTAAAAT | NP_570846.1:n.1068+22_1068+23insACACACATCTAAAAT | |
| NM_130834.2:c.1119+22_1119+23insACACACATCTAAAAT | NP_570847.2:n.1119+22_1119+23insACACACATCTAAAAT | |
| NM_130835.2:c.1122+22_1122+23insACACACATCTAAAAT | NP_570848.1:n.1122+22_1122+23insACACACATCTAAAAT | |
| NM_130836.2:c.1176+22_1176+23insACACACATCTAAAAT | NP_570849.2:n.1176+22_1176+23insACACACATCTAAAAT | |
| NM_130837.2:c.1230+22_1230+23insACACACATCTAAAAT , LRG_337t2:c.1230+22_1230+23insACACACATCTAAAAT | NP_570850.2:n.1230+22_1230+23insACACACATCTAAAAT | |
| XM_011512863.1:c.1230+22_1230+23insACACACATCTAAAAT | XP_011511165.1:n.1230+22_1230+23insACACACATCTAAAAT | |
| XM_011512864.1:c.1176+22_1176+23insACACACATCTAAAAT | XP_011511166.1:n.1176+22_1176+23insACACACATCTAAAAT | |
| XM_011512865.1:c.1119+22_1119+23insACACACATCTAAAAT | XP_011511167.1:n.1119+22_1119+23insACACACATCTAAAAT | |
| XM_011512866.1:c.1068+22_1068+23insACACACATCTAAAAT | XP_011511168.1:n.1068+22_1068+23insACACACATCTAAAAT | |
| XM_011512867.1:c.1065+22_1065+23insACACACATCTAAAAT | XP_011511169.1:n.1065+22_1065+23insACACACATCTAAAAT | |
| XM_011512868.1:c.957+22_957+23insACACACATCTAAAAT | XP_011511170.1:n.957+22_957+23insACACACATCTAAAAT | |
| XM_011512869.1:c.1230+22_1230+23insACACACATCTAAAAT | XP_011511171.1:n.1230+22_1230+23insACACACATCTAAAAT | |
| NM_001354663.1:c.696+22_696+23insACACACATCTAAAAT | NP_001341592.1:n.696+22_696+23insACACACATCTAAAAT | |
| NM_001354664.1:c.693+22_693+23insACACACATCTAAAAT | NP_001341593.1:n.693+22_693+23insACACACATCTAAAAT | |
| XR_001740158.2:n.1459+22_1459+23insACACACATCTAAAAT | ||
| XR_001740159.2:n.1294+22_1294+23insACACACATCTAAAAT | ||
| NM_001354663.2:c.696+22_696+23insACACACATCTAAAAT | NP_001341592.1:n.696+22_696+23insACACACATCTAAAAT | |
| NM_001354664.2:c.693+22_693+23insACACACATCTAAAAT | NP_001341593.1:n.693+22_693+23insACACACATCTAAAAT | |
| NM_130831.3:c.957+22_957+23insACACACATCTAAAAT | NP_570844.1:n.957+22_957+23insACACACATCTAAAAT | |
| NM_130832.3:c.1011+22_1011+23insACACACATCTAAAAT | NP_570845.1:n.1011+22_1011+23insACACACATCTAAAAT | |
| NM_130834.3:c.1119+22_1119+23insACACACATCTAAAAT | NP_570847.2:n.1119+22_1119+23insACACACATCTAAAAT | |
| NM_130836.3:c.1176+22_1176+23insACACACATCTAAAAT | NP_570849.2:n.1176+22_1176+23insACACACATCTAAAAT | |
| NM_015560.3:c.1065+22_1065+23insACACACATCTAAAAT | NP_056375.2:n.1065+22_1065+23insACACACATCTAAAAT | |
| NM_130833.3:c.1068+22_1068+23insACACACATCTAAAAT | NP_570846.1:n.1068+22_1068+23insACACACATCTAAAAT | |
| NM_130835.3:c.1122+22_1122+23insACACACATCTAAAAT | NP_570848.1:n.1122+22_1122+23insACACACATCTAAAAT | |
| NM_130837.3:c.1230+22_1230+23insACACACATCTAAAAT MANE Select | NP_570850.2:n.1230+22_1230+23insACACACATCTAAAAT |