Linked Data
dbSNP Id:
rs1023002487
gnomAD v2:
3-193361482-TTAAA-T
gnomAD v3:
3-193643693-TTAAA-T
gnomAD v4:
3-193643693-TTAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193643696_193643699del , CM000665.2:g.193643696_193643699del | GRCh38 |
| NC_000003.11:g.193361485_193361488del , CM000665.1:g.193361485_193361488del | GRCh37 |
| NC_000003.10:g.194844179_194844182del | NCBI36 |
| NG_011605.1:g.55553_55556del , LRG_337:g.55553_55556del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1477+69_1477+72del MANE Select | ENSP00000355324.2:n.1477+69_1477+72del | |
| ENST00000361828.7:c.1312+69_1312+72del | ENSP00000354429.3:n.1312+69_1312+72del | |
| ENST00000361908.8:c.1423+69_1423+72del | ENSP00000354681.3:n.1423+69_1423+72del | |
| ENST00000392436.7:c.1312+69_1312+72del | ENSP00000376231.3:n.1312+69_1312+72del | |
| ENST00000392437.6:c.1366+69_1366+72del | ENSP00000376232.2:n.1366+69_1366+72del | |
| ENST00000642289.1:c.1251+69_1251+72del | ||
| ENST00000642445.1:c.1312+69_1312+72del | ENSP00000495535.1:n.1312+69_1312+72del | |
| ENST00000642593.1:c.1312+69_1312+72del | ENSP00000494273.1:n.1312+69_1312+72del | |
| ENST00000643329.1:c.994+69_994+72del | ENSP00000493673.1:n.994+69_994+72del | |
| ENST00000643737.1:c.*1393+69_*1393+72del | ENSP00000494210.1:n.*1393+69_*1393+72del | |
| ENST00000644595.1:c.1312+69_1312+72del | ENSP00000494121.1:n.1312+69_1312+72del | |
| ENST00000644629.1:c.972+69_972+72del | ||
| ENST00000644841.1:c.940+69_940+72del | ENSP00000493988.1:n.940+69_940+72del | |
| ENST00000644959.1:c.1281+69_1281+72del | ||
| ENST00000645553.1:c.1327+69_1327+72del | ENSP00000494725.1:n.1327+69_1327+72del | |
| ENST00000646085.1:c.*790+69_*790+72del | ENSP00000494509.1:n.*790+69_*790+72del | |
| ENST00000646277.1:c.1477+69_1477+72del | ENSP00000495289.1:n.1477+69_1477+72del | |
| ENST00000646544.1:c.300+69_300+72del | ||
| ENST00000646699.1:c.1251+69_1251+72del | ||
| ENST00000646793.1:c.1204+69_1204+72del | ENSP00000494512.1:n.1204+69_1204+72del | |
| ENST00000361150.6:c.1315+69_1315+72del | ENSP00000354781.2:n.1315+69_1315+72del | |
| ENST00000361510.6:c.1477+69_1477+72del | ENSP00000355324.2:n.1477+69_1477+72del | |
| ENST00000361715.6:c.1369+69_1369+72del | ENSP00000355311.2:n.1369+69_1369+72del | |
| ENST00000361828.6:c.1366+69_1366+72del | ENSP00000354429.2:n.1366+69_1366+72del | |
| ENST00000361908.7:c.1423+69_1423+72del | ENSP00000354681.3:n.1423+69_1423+72del | |
| ENST00000392438.7:c.1312+69_1312+72del | ENSP00000376233.3:n.1312+69_1312+72del | |
| ENST00000475899.1:n.508+69_508+72del | ||
| NM_015560.2:c.1312+69_1312+72del , LRG_337t1:c.1312+69_1312+72del | NP_056375.2:n.1312+69_1312+72del | |
| NM_130831.2:c.1204+69_1204+72del | NP_570844.1:n.1204+69_1204+72del | |
| NM_130832.2:c.1258+69_1258+72del | NP_570845.1:n.1258+69_1258+72del | |
| NM_130833.2:c.1315+69_1315+72del | NP_570846.1:n.1315+69_1315+72del | |
| NM_130834.2:c.1366+69_1366+72del | NP_570847.2:n.1366+69_1366+72del | |
| NM_130835.2:c.1369+69_1369+72del | NP_570848.1:n.1369+69_1369+72del | |
| NM_130836.2:c.1423+69_1423+72del | NP_570849.2:n.1423+69_1423+72del | |
| NM_130837.2:c.1477+69_1477+72del , LRG_337t2:c.1477+69_1477+72del | NP_570850.2:n.1477+69_1477+72del | |
| XM_011512863.1:c.1477+69_1477+72del | XP_011511165.1:n.1477+69_1477+72del | |
| XM_011512864.1:c.1423+69_1423+72del | XP_011511166.1:n.1423+69_1423+72del | |
| XM_011512865.1:c.1366+69_1366+72del | XP_011511167.1:n.1366+69_1366+72del | |
| XM_011512866.1:c.1315+69_1315+72del | XP_011511168.1:n.1315+69_1315+72del | |
| XM_011512867.1:c.1312+69_1312+72del | XP_011511169.1:n.1312+69_1312+72del | |
| XM_011512868.1:c.1204+69_1204+72del | XP_011511170.1:n.1204+69_1204+72del | |
| XM_011512869.1:c.1477+69_1477+72del | XP_011511171.1:n.1477+69_1477+72del | |
| NM_001354663.1:c.943+69_943+72del | NP_001341592.1:n.943+69_943+72del | |
| NM_001354664.1:c.940+69_940+72del | NP_001341593.1:n.940+69_940+72del | |
| XR_001740158.2:n.1706+69_1706+72del | ||
| XR_001740159.2:n.1541+69_1541+72del | ||
| NM_001354663.2:c.943+69_943+72del | NP_001341592.1:n.943+69_943+72del | |
| NM_001354664.2:c.940+69_940+72del | NP_001341593.1:n.940+69_940+72del | |
| NM_130831.3:c.1204+69_1204+72del | NP_570844.1:n.1204+69_1204+72del | |
| NM_130832.3:c.1258+69_1258+72del | NP_570845.1:n.1258+69_1258+72del | |
| NM_130834.3:c.1366+69_1366+72del | NP_570847.2:n.1366+69_1366+72del | |
| NM_130836.3:c.1423+69_1423+72del | NP_570849.2:n.1423+69_1423+72del | |
| NM_015560.3:c.1312+69_1312+72del | NP_056375.2:n.1312+69_1312+72del | |
| NM_130833.3:c.1315+69_1315+72del | NP_570846.1:n.1315+69_1315+72del | |
| NM_130835.3:c.1369+69_1369+72del | NP_570848.1:n.1369+69_1369+72del | |
| NM_130837.3:c.1477+69_1477+72del MANE Select | NP_570850.2:n.1477+69_1477+72del |