SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.31861262_31861263delinsGT , CM000684.2:g.31861262_31861263delinsGT | GRCh38 |
| NC_000022.10:g.32257248_32257249delinsGT , CM000684.1:g.32257248_32257249delinsGT | GRCh37 |
| NC_000022.9:g.30587248_30587249delinsGT | NCBI36 |
| NG_034067.1:g.112312_112313delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382112.8:c.3265-106_3265-105delinsGT | ENSP00000371546.4:n.3265-106_3265-105delinsGT | |
| ENST00000400246.7:c.3030+3709_3030+3710delinsGT | ENSP00000383105.3:n.3030+3709_3030+3710delinsGT | |
| ENST00000400248.7:c.3237+3709_3237+3710delinsGT | ENSP00000383107.1:n.3237+3709_3237+3710delinsGT | |
| ENST00000400249.7:c.3264+3709_3264+3710delinsGT | ENSP00000383108.3:n.3264+3709_3264+3710delinsGT | |
| ENST00000433147.2:c.3181-106_3181-105delinsGT | ENSP00000410544.2:n.3181-106_3181-105delinsGT | |
| ENST00000448753.6:c.1321-106_1321-105delinsGT | ENSP00000402173.1:n.1321-106_1321-105delinsGT | |
| ENST00000535622.6:c.3030+3709_3030+3710delinsGT | ENSP00000440210.1:n.3030+3709_3030+3710delinsGT | |
| ENST00000642684.1:c.*2957+3709_*2957+3710delinsGT | ENSP00000494554.1:n.*2957+3709_*2957+3710delinsGT | |
| ENST00000642696.1:c.3237+3709_3237+3710delinsGT | ENSP00000495917.1:n.3237+3709_3237+3710delinsGT | |
| ENST00000642771.1:c.*1276-106_*1276-105delinsGT | ENSP00000496278.1:n.*1276-106_*1276-105delinsGT | |
| ENST00000643021.1:n.289+3709_289+3710delinsGT | ||
| ENST00000643097.1:n.196-106_196-105delinsGT | ||
| ENST00000643395.1:c.3030+3709_3030+3710delinsGT | ENSP00000496630.1:n.3030+3709_3030+3710delinsGT | |
| ENST00000643751.2:c.3265-106_3265-105delinsGT | ENSP00000495496.1:n.3265-106_3265-105delinsGT | |
| ENST00000644162.1:c.*1893-106_*1893-105delinsGT | ENSP00000495371.1:n.*1893-106_*1893-105delinsGT | |
| ENST00000644331.1:c.3264+3709_3264+3710delinsGT | ENSP00000494406.1:n.3264+3709_3264+3710delinsGT | |
| ENST00000644690.1:n.186+3709_186+3710delinsGT | ||
| ENST00000645407.1:c.3288+3709_3288+3710delinsGT | ENSP00000496252.1:n.3288+3709_3288+3710delinsGT | |
| ENST00000645494.1:c.*1249-106_*1249-105delinsGT | ENSP00000495338.1:n.*1249-106_*1249-105delinsGT | |
| ENST00000645560.1:c.3031-106_3031-105delinsGT | ENSP00000495544.1:n.3031-106_3031-105delinsGT | |
| ENST00000645711.1:c.3238-106_3238-105delinsGT | ENSP00000493489.1:n.3238-106_3238-105delinsGT | |
| ENST00000645755.1:c.*2136+3709_*2136+3710delinsGT | ENSP00000495873.1:n.*2136+3709_*2136+3710delinsGT | |
| ENST00000645893.1:n.2122-106_2122-105delinsGT | ||
| ENST00000646135.1:n.737-106_737-105delinsGT | ||
| ENST00000646465.1:c.3031-106_3031-105delinsGT | ENSP00000495655.1:n.3031-106_3031-105delinsGT | |
| ENST00000646515.1:c.3265-106_3265-105delinsGT | ENSP00000494700.1:n.3265-106_3265-105delinsGT | |
| ENST00000646701.1:c.1786+42037_1786+42038delinsGT | ENSP00000496158.1:n.1786+42037_1786+42038delinsGT | |
| ENST00000646830.1:n.195+3709_195+3710delinsGT | ||
| ENST00000646969.1:c.3031-106_3031-105delinsGT | ENSP00000496724.1:n.3031-106_3031-105delinsGT | |
| ENST00000646998.1:c.3264+3709_3264+3710delinsGT | ENSP00000494662.1:n.3264+3709_3264+3710delinsGT | |
| ENST00000647343.1:c.3181-106_3181-105delinsGT | ENSP00000494879.1:n.3181-106_3181-105delinsGT | |
| ENST00000651528.2:c.3265-106_3265-105delinsGT MANE Select | ENSP00000498382.1:n.3265-106_3265-105delinsGT | |
| ENST00000382111.6:c.3265-106_3265-105delinsGT | ENSP00000371545.2:n.3265-106_3265-105delinsGT | |
| ENST00000382112.7:c.3238-106_3238-105delinsGT | ENSP00000371546.3:n.3238-106_3238-105delinsGT | |
| ENST00000400246.5:c.3265-106_3265-105delinsGT | ENSP00000383105.2:n.3265-106_3265-105delinsGT | |
| ENST00000400248.6:c.3237+3709_3237+3710delinsGT | ENSP00000383107.1:n.3237+3709_3237+3710delinsGT | |
| ENST00000400249.6:c.3237+3709_3237+3710delinsGT | ENSP00000383108.2:n.3237+3709_3237+3710delinsGT | |
| ENST00000433147.1:c.1456+3709_1456+3710delinsGT | ||
| ENST00000448753.5:c.1321-106_1321-105delinsGT | ENSP00000402173.1:n.1321-106_1321-105delinsGT | |
| ENST00000494060.1:n.138+3709_138+3710delinsGT | ||
| ENST00000535622.5:c.3030+3709_3030+3710delinsGT | ENSP00000440210.1:n.3030+3709_3030+3710delinsGT | |
| NM_001136029.2:c.3238-106_3238-105delinsGT | NP_001129501.1:n.3238-106_3238-105delinsGT | |
| NM_001242896.1:c.3265-106_3265-105delinsGT | NP_001229825.1:n.3265-106_3265-105delinsGT | |
| NM_001242897.1:c.3030+3709_3030+3710delinsGT | NP_001229826.1:n.3030+3709_3030+3710delinsGT | |
| NM_014662.4:c.3237+3709_3237+3710delinsGT | NP_055477.1:n.3237+3709_3237+3710delinsGT | |
| NR_110988.1:n.3232+3709_3232+3710delinsGT | ||
| XM_005261862.1:c.3265-106_3265-105delinsGT | XP_005261919.1:n.3265-106_3265-105delinsGT | |
| XM_011530557.1:c.3238-106_3238-105delinsGT | XP_011528859.1:n.3238-106_3238-105delinsGT | |
| XM_011530558.1:c.3264+3709_3264+3710delinsGT | XP_011528860.1:n.3264+3709_3264+3710delinsGT | |
| XM_011530559.1:c.3237+3709_3237+3710delinsGT | XP_011528861.1:n.3237+3709_3237+3710delinsGT | |
| XM_011530560.1:c.3031-106_3031-105delinsGT | XP_011528862.1:n.3031-106_3031-105delinsGT | |
| XM_011530561.1:c.3004-106_3004-105delinsGT | XP_011528863.1:n.3004-106_3004-105delinsGT | |
| XM_011530562.1:c.3265-106_3265-105delinsGT | XP_011528864.1:n.3265-106_3265-105delinsGT | |
| XM_011530563.1:c.3030+3709_3030+3710delinsGT | XP_011528865.1:n.3030+3709_3030+3710delinsGT | |
| XM_011530564.1:c.3265-106_3265-105delinsGT | XP_011528866.1:n.3265-106_3265-105delinsGT | |
| XM_011530565.1:c.3265-106_3265-105delinsGT | XP_011528867.1:n.3265-106_3265-105delinsGT | |
| XM_011530566.1:c.3265-106_3265-105delinsGT | XP_011528868.1:n.3265-106_3265-105delinsGT | |
| XM_011530567.1:c.3265-106_3265-105delinsGT | XP_011528869.1:n.3265-106_3265-105delinsGT | |
| XM_011530568.1:c.3264+3709_3264+3710delinsGT | XP_011528870.1:n.3264+3709_3264+3710delinsGT | |
| XM_011530569.1:c.1159-106_1159-105delinsGT | XP_011528871.1:n.1159-106_1159-105delinsGT | |
| XR_937972.1:n.3462-106_3462-105delinsGT | ||
| XR_937973.1:n.3228-106_3228-105delinsGT | ||
| NM_001136029.3:c.3238-106_3238-105delinsGT | NP_001129501.1:n.3238-106_3238-105delinsGT | |
| NM_001242896.2:c.3265-106_3265-105delinsGT | NP_001229825.1:n.3265-106_3265-105delinsGT | |
| NM_001363852.1:c.3264+3709_3264+3710delinsGT | NP_001350781.1:n.3264+3709_3264+3710delinsGT | |
| NM_001363854.1:c.3031-106_3031-105delinsGT | NP_001350783.1:n.3031-106_3031-105delinsGT | |
| NM_001364318.1:c.3265-106_3265-105delinsGT | NP_001351247.1:n.3265-106_3265-105delinsGT | |
| NM_001364319.1:c.3031-106_3031-105delinsGT | NP_001351248.1:n.3031-106_3031-105delinsGT | |
| NM_001364320.1:c.3264+3709_3264+3710delinsGT | NP_001351249.1:n.3264+3709_3264+3710delinsGT | |
| NM_014662.5:c.3237+3709_3237+3710delinsGT | NP_055477.1:n.3237+3709_3237+3710delinsGT | |
| NR_110988.2:n.3236+3709_3236+3710delinsGT | ||
| NR_146296.1:n.3371-106_3371-105delinsGT | ||
| NR_157125.1:n.3227+3709_3227+3710delinsGT | ||
| NR_157126.1:n.3354-106_3354-105delinsGT | ||
| NR_157128.1:n.3470+3709_3470+3710delinsGT | ||
| XM_011530557.2:c.3238-106_3238-105delinsGT | XP_011528859.1:n.3238-106_3238-105delinsGT | |
| XM_011530559.2:c.3237+3709_3237+3710delinsGT | XP_011528861.1:n.3237+3709_3237+3710delinsGT | |
| XM_011530561.2:c.3004-106_3004-105delinsGT | XP_011528863.1:n.3004-106_3004-105delinsGT | |
| XM_011530562.2:c.3265-106_3265-105delinsGT | XP_011528864.1:n.3265-106_3265-105delinsGT | |
| XM_011530563.2:c.3030+3709_3030+3710delinsGT | XP_011528865.1:n.3030+3709_3030+3710delinsGT | |
| XM_011530565.2:c.3265-106_3265-105delinsGT | XP_011528867.1:n.3265-106_3265-105delinsGT | |
| XM_011530568.2:c.3264+3709_3264+3710delinsGT | XP_011528870.1:n.3264+3709_3264+3710delinsGT | |
| XM_011530569.2:c.1159-106_1159-105delinsGT | XP_011528871.1:n.1159-106_1159-105delinsGT | |
| XM_024452305.1:c.1132-106_1132-105delinsGT | XP_024308073.1:n.1132-106_1132-105delinsGT | |
| XR_001755389.1:n.3474-106_3474-105delinsGT | ||
| XR_001755390.1:n.3474-106_3474-105delinsGT | ||
| XR_937973.2:n.3240-106_3240-105delinsGT | ||
| NM_001242896.3:c.3265-106_3265-105delinsGT MANE Select | NP_001229825.1:n.3265-106_3265-105delinsGT | |
| NM_001242897.2:c.3030+3709_3030+3710delinsGT | NP_001229826.1:n.3030+3709_3030+3710delinsGT | |
| NM_001363852.2:c.3264+3709_3264+3710delinsGT | NP_001350781.1:n.3264+3709_3264+3710delinsGT | |
| NM_001363854.2:c.3031-106_3031-105delinsGT | NP_001350783.1:n.3031-106_3031-105delinsGT | |
| NM_001369901.1:c.3181-106_3181-105delinsGT | NP_001356830.1:n.3181-106_3181-105delinsGT | |
| NM_001369902.1:c.3181-106_3181-105delinsGT | NP_001356831.1:n.3181-106_3181-105delinsGT | |
| NM_001369903.1:c.3237+3709_3237+3710delinsGT | NP_001356832.1:n.3237+3709_3237+3710delinsGT | |
| NR_146296.2:n.3354-106_3354-105delinsGT | ||
| NM_001136029.4:c.3238-106_3238-105delinsGT | NP_001129501.1:n.3238-106_3238-105delinsGT | |
| NM_001364318.2:c.3265-106_3265-105delinsGT | NP_001351247.1:n.3265-106_3265-105delinsGT | |
| NM_001364319.2:c.3031-106_3031-105delinsGT | NP_001351248.1:n.3031-106_3031-105delinsGT | |
| NM_001364320.2:c.3264+3709_3264+3710delinsGT | NP_001351249.1:n.3264+3709_3264+3710delinsGT | |
| NM_014662.6:c.3237+3709_3237+3710delinsGT | NP_055477.1:n.3237+3709_3237+3710delinsGT | |
| NR_157125.2:n.3227+3709_3227+3710delinsGT | ||
| NR_157126.2:n.3354-106_3354-105delinsGT |