Linked Data
dbSNP Id:
rs1455501137
gnomAD v3:
3-193646999-GTGGTAGTATTGT-G
gnomAD v4:
3-193646999-GTGGTAGTATTGT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193647002_193647013del , CM000665.2:g.193647002_193647013del | GRCh38 |
| NC_000003.11:g.193364791_193364802del , CM000665.1:g.193364791_193364802del | GRCh37 |
| NC_000003.10:g.194847485_194847496del | NCBI36 |
| NG_011605.1:g.58859_58870del , LRG_337:g.58859_58870del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1755-63_1755-52del MANE Select | ENSP00000355324.2:n.1755-63_1755-52del | |
| ENST00000361828.7:c.1590-63_1590-52del | ENSP00000354429.3:n.1590-63_1590-52del | |
| ENST00000361908.8:c.1701-63_1701-52del | ENSP00000354681.3:n.1701-63_1701-52del | |
| ENST00000392436.7:c.1590-63_1590-52del | ENSP00000376231.3:n.1590-63_1590-52del | |
| ENST00000392437.6:c.1644-63_1644-52del | ENSP00000376232.2:n.1644-63_1644-52del | |
| ENST00000642289.1:c.1529-63_1529-52del | ||
| ENST00000642445.1:c.1590-63_1590-52del | ENSP00000495535.1:n.1590-63_1590-52del | |
| ENST00000642593.1:c.1590-63_1590-52del | ENSP00000494273.1:n.1590-63_1590-52del | |
| ENST00000643329.1:c.1272-63_1272-52del | ENSP00000493673.1:n.1272-63_1272-52del | |
| ENST00000643737.1:c.*1671-63_*1671-52del | ENSP00000494210.1:n.*1671-63_*1671-52del | |
| ENST00000644595.1:c.1590-63_1590-52del | ENSP00000494121.1:n.1590-63_1590-52del | |
| ENST00000644629.1:c.1177-63_1177-52del | ||
| ENST00000644841.1:c.*74-63_*74-52del | ENSP00000493988.1:n.*74-63_*74-52del | |
| ENST00000644959.1:c.1559-63_1559-52del | ||
| ENST00000645553.1:c.1605-63_1605-52del | ENSP00000494725.1:n.1605-63_1605-52del | |
| ENST00000646085.1:c.*1068-63_*1068-52del | ENSP00000494509.1:n.*1068-63_*1068-52del | |
| ENST00000646277.1:c.*191-63_*191-52del | ENSP00000495289.1:n.*191-63_*191-52del | |
| ENST00000646544.1:c.578-63_578-52del | ||
| ENST00000646699.1:c.1529-63_1529-52del | ||
| ENST00000646793.1:c.1482-63_1482-52del | ENSP00000494512.1:n.1482-63_1482-52del | |
| ENST00000361150.6:c.1593-63_1593-52del | ENSP00000354781.2:n.1593-63_1593-52del | |
| ENST00000361510.6:c.1755-63_1755-52del | ENSP00000355324.2:n.1755-63_1755-52del | |
| ENST00000361715.6:c.1647-63_1647-52del | ENSP00000355311.2:n.1647-63_1647-52del | |
| ENST00000361828.6:c.1644-63_1644-52del | ENSP00000354429.2:n.1644-63_1644-52del | |
| ENST00000361908.7:c.1701-63_1701-52del | ENSP00000354681.3:n.1701-63_1701-52del | |
| ENST00000392438.7:c.1590-63_1590-52del | ENSP00000376233.3:n.1590-63_1590-52del | |
| ENST00000483516.1:n.88-63_88-52del | ||
| NM_015560.2:c.1590-63_1590-52del , LRG_337t1:c.1590-63_1590-52del | NP_056375.2:n.1590-63_1590-52del | |
| NM_130831.2:c.1482-63_1482-52del | NP_570844.1:n.1482-63_1482-52del | |
| NM_130832.2:c.1536-63_1536-52del | NP_570845.1:n.1536-63_1536-52del | |
| NM_130833.2:c.1593-63_1593-52del | NP_570846.1:n.1593-63_1593-52del | |
| NM_130834.2:c.1644-63_1644-52del | NP_570847.2:n.1644-63_1644-52del | |
| NM_130835.2:c.1647-63_1647-52del | NP_570848.1:n.1647-63_1647-52del | |
| NM_130836.2:c.1701-63_1701-52del | NP_570849.2:n.1701-63_1701-52del | |
| NM_130837.2:c.1755-63_1755-52del , LRG_337t2:c.1755-63_1755-52del | NP_570850.2:n.1755-63_1755-52del | |
| XM_011512863.1:c.1755-63_1755-52del | XP_011511165.1:n.1755-63_1755-52del | |
| XM_011512864.1:c.1701-63_1701-52del | XP_011511166.1:n.1701-63_1701-52del | |
| XM_011512865.1:c.1644-63_1644-52del | XP_011511167.1:n.1644-63_1644-52del | |
| XM_011512866.1:c.1593-63_1593-52del | XP_011511168.1:n.1593-63_1593-52del | |
| XM_011512867.1:c.1590-63_1590-52del | XP_011511169.1:n.1590-63_1590-52del | |
| XM_011512868.1:c.1482-63_1482-52del | XP_011511170.1:n.1482-63_1482-52del | |
| XM_011512869.1:c.1755-63_1755-52del | XP_011511171.1:n.1755-63_1755-52del | |
| NM_001354663.1:c.1221-63_1221-52del | NP_001341592.1:n.1221-63_1221-52del | |
| NM_001354664.1:c.1218-63_1218-52del | NP_001341593.1:n.1218-63_1218-52del | |
| XR_001740158.2:n.1984-63_1984-52del | ||
| XR_001740159.2:n.1819-63_1819-52del | ||
| NM_001354663.2:c.1221-63_1221-52del | NP_001341592.1:n.1221-63_1221-52del | |
| NM_001354664.2:c.1218-63_1218-52del | NP_001341593.1:n.1218-63_1218-52del | |
| NM_130831.3:c.1482-63_1482-52del | NP_570844.1:n.1482-63_1482-52del | |
| NM_130832.3:c.1536-63_1536-52del | NP_570845.1:n.1536-63_1536-52del | |
| NM_130834.3:c.1644-63_1644-52del | NP_570847.2:n.1644-63_1644-52del | |
| NM_130836.3:c.1701-63_1701-52del | NP_570849.2:n.1701-63_1701-52del | |
| NM_015560.3:c.1590-63_1590-52del | NP_056375.2:n.1590-63_1590-52del | |
| NM_130833.3:c.1593-63_1593-52del | NP_570846.1:n.1593-63_1593-52del | |
| NM_130835.3:c.1647-63_1647-52del | NP_570848.1:n.1647-63_1647-52del | |
| NM_130837.3:c.1755-63_1755-52del MANE Select | NP_570850.2:n.1755-63_1755-52del |