Linked Data
dbSNP Id:
rs3069117
gnomAD v2:
22-32265551-TAAAA-T
gnomAD v3:
22-31869565-TAAAA-T
gnomAD v4:
22-31869565-TAAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.31869583_31869586del , CM000684.2:g.31869583_31869586del | GRCh38 |
| NC_000022.10:g.32265569_32265572del , CM000684.1:g.32265569_32265572del | GRCh37 |
| NC_000022.9:g.30595569_30595572del | NCBI36 |
| NG_034067.1:g.120633_120636del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382112.8:c.3331-1007_3331-1004del | ENSP00000371546.4:n.3331-1007_3331-1004del | |
| ENST00000400246.7:c.3031-1007_3031-1004del | ENSP00000383105.3:n.3031-1007_3031-1004del | |
| ENST00000400248.7:c.3238-1007_3238-1004del | ENSP00000383107.1:n.3238-1007_3238-1004del | |
| ENST00000400249.7:c.3265-1007_3265-1004del | ENSP00000383108.3:n.3265-1007_3265-1004del | |
| ENST00000433147.2:c.3247-1007_3247-1004del | ENSP00000410544.2:n.3247-1007_3247-1004del | |
| ENST00000448753.6:c.1387-1007_1387-1004del | ENSP00000402173.1:n.1387-1007_1387-1004del | |
| ENST00000535622.6:c.3031-1007_3031-1004del | ENSP00000440210.1:n.3031-1007_3031-1004del | |
| ENST00000642684.1:c.*2958-1007_*2958-1004del | ENSP00000494554.1:n.*2958-1007_*2958-1004del | |
| ENST00000642696.1:c.3238-1007_3238-1004del | ENSP00000495917.1:n.3238-1007_3238-1004del | |
| ENST00000642771.1:c.*1342-1007_*1342-1004del | ENSP00000496278.1:n.*1342-1007_*1342-1004del | |
| ENST00000642956.1:n.71-1007_71-1004del | ||
| ENST00000643021.1:n.290-1007_290-1004del | ||
| ENST00000643097.1:n.262-1007_262-1004del | ||
| ENST00000643395.1:c.3031-1007_3031-1004del | ENSP00000496630.1:n.3031-1007_3031-1004del | |
| ENST00000643751.2:c.3331-1007_3331-1004del | ENSP00000495496.1:n.3331-1007_3331-1004del | |
| ENST00000644162.1:c.*1959-1007_*1959-1004del | ENSP00000495371.1:n.*1959-1007_*1959-1004del | |
| ENST00000644331.1:c.3265-1007_3265-1004del | ENSP00000494406.1:n.3265-1007_3265-1004del | |
| ENST00000644690.1:n.187-1007_187-1004del | ||
| ENST00000645407.1:c.3289-1007_3289-1004del | ENSP00000496252.1:n.3289-1007_3289-1004del | |
| ENST00000645494.1:c.*1315-1007_*1315-1004del | ENSP00000495338.1:n.*1315-1007_*1315-1004del | |
| ENST00000645547.1:c.64-1007_64-1004del | ENSP00000496023.1:n.64-1007_64-1004del | |
| ENST00000645560.1:c.3097-1007_3097-1004del | ENSP00000495544.1:n.3097-1007_3097-1004del | |
| ENST00000645711.1:c.3304-1007_3304-1004del | ENSP00000493489.1:n.3304-1007_3304-1004del | |
| ENST00000645755.1:c.*2137-1007_*2137-1004del | ENSP00000495873.1:n.*2137-1007_*2137-1004del | |
| ENST00000645893.1:n.2188-1007_2188-1004del | ||
| ENST00000646135.1:n.803-1007_803-1004del | ||
| ENST00000646465.1:c.3097-1007_3097-1004del | ENSP00000495655.1:n.3097-1007_3097-1004del | |
| ENST00000646515.1:c.3331-1007_3331-1004del | ENSP00000494700.1:n.3331-1007_3331-1004del | |
| ENST00000646701.1:c.1786+50358_1786+50361del | ENSP00000496158.1:n.1786+50358_1786+50361del | |
| ENST00000646830.1:n.196-1007_196-1004del | ||
| ENST00000646969.1:c.3097-1007_3097-1004del | ENSP00000496724.1:n.3097-1007_3097-1004del | |
| ENST00000646998.1:c.3265-1007_3265-1004del | ENSP00000494662.1:n.3265-1007_3265-1004del | |
| ENST00000647343.1:c.3247-1007_3247-1004del | ENSP00000494879.1:n.3247-1007_3247-1004del | |
| ENST00000651528.2:c.3331-1007_3331-1004del MANE Select | ENSP00000498382.1:n.3331-1007_3331-1004del | |
| ENST00000382111.6:c.3331-1007_3331-1004del | ENSP00000371545.2:n.3331-1007_3331-1004del | |
| ENST00000382112.7:c.3304-1007_3304-1004del | ENSP00000371546.3:n.3304-1007_3304-1004del | |
| ENST00000400246.5:c.3331-1007_3331-1004del | ENSP00000383105.2:n.3331-1007_3331-1004del | |
| ENST00000400248.6:c.3238-1007_3238-1004del | ENSP00000383107.1:n.3238-1007_3238-1004del | |
| ENST00000400249.6:c.3238-1007_3238-1004del | ENSP00000383108.2:n.3238-1007_3238-1004del | |
| ENST00000433147.1:c.1457-1007_1457-1004del | ||
| ENST00000448753.5:c.1387-1007_1387-1004del | ENSP00000402173.1:n.1387-1007_1387-1004del | |
| ENST00000494060.1:n.139-1007_139-1004del | ||
| ENST00000535622.5:c.3031-1007_3031-1004del | ENSP00000440210.1:n.3031-1007_3031-1004del | |
| NM_001136029.2:c.3304-1007_3304-1004del | NP_001129501.1:n.3304-1007_3304-1004del | |
| NM_001242896.1:c.3331-1007_3331-1004del | NP_001229825.1:n.3331-1007_3331-1004del | |
| NM_001242897.1:c.3031-1007_3031-1004del | NP_001229826.1:n.3031-1007_3031-1004del | |
| NM_014662.4:c.3238-1007_3238-1004del | NP_055477.1:n.3238-1007_3238-1004del | |
| NR_110988.1:n.3233-1007_3233-1004del | ||
| XM_005261862.1:c.3331-1007_3331-1004del | XP_005261919.1:n.3331-1007_3331-1004del | |
| XM_011530557.1:c.3304-1007_3304-1004del | XP_011528859.1:n.3304-1007_3304-1004del | |
| XM_011530558.1:c.3265-1007_3265-1004del | XP_011528860.1:n.3265-1007_3265-1004del | |
| XM_011530559.1:c.3238-1007_3238-1004del | XP_011528861.1:n.3238-1007_3238-1004del | |
| XM_011530560.1:c.3097-1007_3097-1004del | XP_011528862.1:n.3097-1007_3097-1004del | |
| XM_011530561.1:c.3070-1007_3070-1004del | XP_011528863.1:n.3070-1007_3070-1004del | |
| XM_011530562.1:c.3331-1007_3331-1004del | XP_011528864.1:n.3331-1007_3331-1004del | |
| XM_011530563.1:c.3031-1007_3031-1004del | XP_011528865.1:n.3031-1007_3031-1004del | |
| XM_011530564.1:c.3331-1007_3331-1004del | XP_011528866.1:n.3331-1007_3331-1004del | |
| XM_011530565.1:c.3331-1007_3331-1004del | XP_011528867.1:n.3331-1007_3331-1004del | |
| XM_011530566.1:c.3331-1007_3331-1004del | XP_011528868.1:n.3331-1007_3331-1004del | |
| XM_011530567.1:c.3331-1007_3331-1004del | XP_011528869.1:n.3331-1007_3331-1004del | |
| XM_011530568.1:c.3265-1007_3265-1004del | XP_011528870.1:n.3265-1007_3265-1004del | |
| XM_011530569.1:c.1225-1007_1225-1004del | XP_011528871.1:n.1225-1007_1225-1004del | |
| XR_937972.1:n.3528-1007_3528-1004del | ||
| XR_937973.1:n.3294-1007_3294-1004del | ||
| NM_001136029.3:c.3304-1007_3304-1004del | NP_001129501.1:n.3304-1007_3304-1004del | |
| NM_001242896.2:c.3331-1007_3331-1004del | NP_001229825.1:n.3331-1007_3331-1004del | |
| NM_001363852.1:c.3265-1007_3265-1004del | NP_001350781.1:n.3265-1007_3265-1004del | |
| NM_001363854.1:c.3097-1007_3097-1004del | NP_001350783.1:n.3097-1007_3097-1004del | |
| NM_001364318.1:c.3331-1007_3331-1004del | NP_001351247.1:n.3331-1007_3331-1004del | |
| NM_001364319.1:c.3097-1007_3097-1004del | NP_001351248.1:n.3097-1007_3097-1004del | |
| NM_001364320.1:c.3265-1007_3265-1004del | NP_001351249.1:n.3265-1007_3265-1004del | |
| NM_014662.5:c.3238-1007_3238-1004del | NP_055477.1:n.3238-1007_3238-1004del | |
| NR_110988.2:n.3237-1007_3237-1004del | ||
| NR_146296.1:n.3437-1007_3437-1004del | ||
| NR_157125.1:n.3228-1007_3228-1004del | ||
| NR_157126.1:n.3420-1007_3420-1004del | ||
| NR_157128.1:n.3471-1007_3471-1004del | ||
| XM_011530557.2:c.3304-1007_3304-1004del | XP_011528859.1:n.3304-1007_3304-1004del | |
| XM_011530559.2:c.3238-1007_3238-1004del | XP_011528861.1:n.3238-1007_3238-1004del | |
| XM_011530561.2:c.3070-1007_3070-1004del | XP_011528863.1:n.3070-1007_3070-1004del | |
| XM_011530562.2:c.3331-1007_3331-1004del | XP_011528864.1:n.3331-1007_3331-1004del | |
| XM_011530563.2:c.3031-1007_3031-1004del | XP_011528865.1:n.3031-1007_3031-1004del | |
| XM_011530565.2:c.3331-1007_3331-1004del | XP_011528867.1:n.3331-1007_3331-1004del | |
| XM_011530568.2:c.3265-1007_3265-1004del | XP_011528870.1:n.3265-1007_3265-1004del | |
| XM_011530569.2:c.1225-1007_1225-1004del | XP_011528871.1:n.1225-1007_1225-1004del | |
| XM_024452305.1:c.1198-1007_1198-1004del | XP_024308073.1:n.1198-1007_1198-1004del | |
| XR_001755389.1:n.3540-1007_3540-1004del | ||
| XR_001755390.1:n.3540-1007_3540-1004del | ||
| XR_937973.2:n.3306-1007_3306-1004del | ||
| NM_001242896.3:c.3331-1007_3331-1004del MANE Select | NP_001229825.1:n.3331-1007_3331-1004del | |
| NM_001242897.2:c.3031-1007_3031-1004del | NP_001229826.1:n.3031-1007_3031-1004del | |
| NM_001363852.2:c.3265-1007_3265-1004del | NP_001350781.1:n.3265-1007_3265-1004del | |
| NM_001363854.2:c.3097-1007_3097-1004del | NP_001350783.1:n.3097-1007_3097-1004del | |
| NM_001369901.1:c.3247-1007_3247-1004del | NP_001356830.1:n.3247-1007_3247-1004del | |
| NM_001369902.1:c.3247-1007_3247-1004del | NP_001356831.1:n.3247-1007_3247-1004del | |
| NM_001369903.1:c.3238-1007_3238-1004del | NP_001356832.1:n.3238-1007_3238-1004del | |
| NR_146296.2:n.3420-1007_3420-1004del | ||
| NM_001136029.4:c.3304-1007_3304-1004del | NP_001129501.1:n.3304-1007_3304-1004del | |
| NM_001364318.2:c.3331-1007_3331-1004del | NP_001351247.1:n.3331-1007_3331-1004del | |
| NM_001364319.2:c.3097-1007_3097-1004del | NP_001351248.1:n.3097-1007_3097-1004del | |
| NM_001364320.2:c.3265-1007_3265-1004del | NP_001351249.1:n.3265-1007_3265-1004del | |
| NM_014662.6:c.3238-1007_3238-1004del | NP_055477.1:n.3238-1007_3238-1004del | |
| NR_157125.2:n.3228-1007_3228-1004del | ||
| NR_157126.2:n.3420-1007_3420-1004del |