Linked Data
dbSNP Id:
rs748933560
ExAC:
3:193364839 ATT / A
gnomAD v2:
3-193364839-ATT-A
gnomAD v4:
3-193647050-ATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193647058_193647059del , CM000665.2:g.193647058_193647059del | GRCh38 |
| NC_000003.11:g.193364847_193364848del , CM000665.1:g.193364847_193364848del | GRCh37 |
| NC_000003.10:g.194847541_194847542del | NCBI36 |
| NG_011605.1:g.58915_58916del , LRG_337:g.58915_58916del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.1755-7_1755-6del MANE Select | ENSP00000355324.2:n.1755-7_1755-6del | |
| ENST00000361828.7:c.1590-7_1590-6del | ENSP00000354429.3:n.1590-7_1590-6del | |
| ENST00000361908.8:c.1701-7_1701-6del | ENSP00000354681.3:n.1701-7_1701-6del | |
| ENST00000392436.7:c.1590-7_1590-6del | ENSP00000376231.3:n.1590-7_1590-6del | |
| ENST00000392437.6:c.1644-7_1644-6del | ENSP00000376232.2:n.1644-7_1644-6del | |
| ENST00000642289.1:c.1529-7_1529-6del | ||
| ENST00000642445.1:c.1590-7_1590-6del | ENSP00000495535.1:n.1590-7_1590-6del | |
| ENST00000642593.1:c.1590-7_1590-6del | ENSP00000494273.1:n.1590-7_1590-6del | |
| ENST00000643329.1:c.1272-7_1272-6del | ENSP00000493673.1:n.1272-7_1272-6del | |
| ENST00000643737.1:c.*1671-7_*1671-6del | ENSP00000494210.1:n.*1671-7_*1671-6del | |
| ENST00000644595.1:c.1590-7_1590-6del | ENSP00000494121.1:n.1590-7_1590-6del | |
| ENST00000644629.1:c.1177-7_1177-6del | ||
| ENST00000644841.1:c.*74-7_*74-6del | ENSP00000493988.1:n.*74-7_*74-6del | |
| ENST00000644959.1:c.1559-7_1559-6del | ||
| ENST00000645553.1:c.1605-7_1605-6del | ENSP00000494725.1:n.1605-7_1605-6del | |
| ENST00000646085.1:c.*1068-7_*1068-6del | ENSP00000494509.1:n.*1068-7_*1068-6del | |
| ENST00000646277.1:c.*191-7_*191-6del | ENSP00000495289.1:n.*191-7_*191-6del | |
| ENST00000646544.1:c.578-7_578-6del | ||
| ENST00000646699.1:c.1529-7_1529-6del | ||
| ENST00000646793.1:c.1482-7_1482-6del | ENSP00000494512.1:n.1482-7_1482-6del | |
| ENST00000361150.6:c.1593-7_1593-6del | ENSP00000354781.2:n.1593-7_1593-6del | |
| ENST00000361510.6:c.1755-7_1755-6del | ENSP00000355324.2:n.1755-7_1755-6del | |
| ENST00000361715.6:c.1647-7_1647-6del | ENSP00000355311.2:n.1647-7_1647-6del | |
| ENST00000361828.6:c.1644-7_1644-6del | ENSP00000354429.2:n.1644-7_1644-6del | |
| ENST00000361908.7:c.1701-7_1701-6del | ENSP00000354681.3:n.1701-7_1701-6del | |
| ENST00000392438.7:c.1590-7_1590-6del | ENSP00000376233.3:n.1590-7_1590-6del | |
| ENST00000483516.1:n.88-7_88-6del | ||
| NM_015560.2:c.1590-7_1590-6del , LRG_337t1:c.1590-7_1590-6del | NP_056375.2:n.1590-7_1590-6del | |
| NM_130831.2:c.1482-7_1482-6del | NP_570844.1:n.1482-7_1482-6del | |
| NM_130832.2:c.1536-7_1536-6del | NP_570845.1:n.1536-7_1536-6del | |
| NM_130833.2:c.1593-7_1593-6del | NP_570846.1:n.1593-7_1593-6del | |
| NM_130834.2:c.1644-7_1644-6del | NP_570847.2:n.1644-7_1644-6del | |
| NM_130835.2:c.1647-7_1647-6del | NP_570848.1:n.1647-7_1647-6del | |
| NM_130836.2:c.1701-7_1701-6del | NP_570849.2:n.1701-7_1701-6del | |
| NM_130837.2:c.1755-7_1755-6del , LRG_337t2:c.1755-7_1755-6del | NP_570850.2:n.1755-7_1755-6del | |
| XM_011512863.1:c.1755-7_1755-6del | XP_011511165.1:n.1755-7_1755-6del | |
| XM_011512864.1:c.1701-7_1701-6del | XP_011511166.1:n.1701-7_1701-6del | |
| XM_011512865.1:c.1644-7_1644-6del | XP_011511167.1:n.1644-7_1644-6del | |
| XM_011512866.1:c.1593-7_1593-6del | XP_011511168.1:n.1593-7_1593-6del | |
| XM_011512867.1:c.1590-7_1590-6del | XP_011511169.1:n.1590-7_1590-6del | |
| XM_011512868.1:c.1482-7_1482-6del | XP_011511170.1:n.1482-7_1482-6del | |
| XM_011512869.1:c.1755-7_1755-6del | XP_011511171.1:n.1755-7_1755-6del | |
| NM_001354663.1:c.1221-7_1221-6del | NP_001341592.1:n.1221-7_1221-6del | |
| NM_001354664.1:c.1218-7_1218-6del | NP_001341593.1:n.1218-7_1218-6del | |
| XR_001740158.2:n.1984-7_1984-6del | ||
| XR_001740159.2:n.1819-7_1819-6del | ||
| NM_001354663.2:c.1221-7_1221-6del | NP_001341592.1:n.1221-7_1221-6del | |
| NM_001354664.2:c.1218-7_1218-6del | NP_001341593.1:n.1218-7_1218-6del | |
| NM_130831.3:c.1482-7_1482-6del | NP_570844.1:n.1482-7_1482-6del | |
| NM_130832.3:c.1536-7_1536-6del | NP_570845.1:n.1536-7_1536-6del | |
| NM_130834.3:c.1644-7_1644-6del | NP_570847.2:n.1644-7_1644-6del | |
| NM_130836.3:c.1701-7_1701-6del | NP_570849.2:n.1701-7_1701-6del | |
| NM_015560.3:c.1590-7_1590-6del | NP_056375.2:n.1590-7_1590-6del | |
| NM_130833.3:c.1593-7_1593-6del | NP_570846.1:n.1593-7_1593-6del | |
| NM_130835.3:c.1647-7_1647-6del | NP_570848.1:n.1647-7_1647-6del | |
| NM_130837.3:c.1755-7_1755-6del MANE Select | NP_570850.2:n.1755-7_1755-6del |