SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.
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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26474625_26474626delinsAG , CM000684.2:g.26474625_26474626delinsAG | GRCh38 |
| NC_000022.10:g.26870591_26870592delinsAG , CM000684.1:g.26870591_26870592delinsAG | GRCh37 |
| NC_000022.9:g.25200591_25200592delinsAG | NCBI36 |
| NG_009763.2:g.14238_14239delinsCT , LRG_590:g.14238_14239delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422379.3:c.277-1687_277-1686delinsCT | ENSP00000415081.3:n.277-1687_277-1686delinsCT | |
| ENST00000473782.2:c.277-1687_277-1686delinsCT | ENSP00000514223.1:n.277-1687_277-1686delinsCT | |
| ENST00000483631.2:c.-519-1687_-519-1686delinsCT | ENSP00000514228.1:n.-519-1687_-519-1686delinsCT | |
| ENST00000491142.2:c.277-1687_277-1686delinsCT | ENSP00000514221.1:n.277-1687_277-1686delinsCT | |
| ENST00000699227.1:c.277-1687_277-1686delinsCT | ENSP00000514220.1:n.277-1687_277-1686delinsCT | |
| ENST00000699228.1:n.827-1687_827-1686delinsCT | ||
| ENST00000699234.1:c.262-1687_262-1686delinsCT | ENSP00000514222.1:n.262-1687_262-1686delinsCT | |
| ENST00000699235.1:c.-446-1687_-446-1686delinsCT | ENSP00000514224.1:n.-446-1687_-446-1686delinsCT | |
| ENST00000699236.1:c.277-1687_277-1686delinsCT | ENSP00000514225.1:n.277-1687_277-1686delinsCT | |
| ENST00000699237.1:c.277-1687_277-1686delinsCT | ENSP00000514226.1:n.277-1687_277-1686delinsCT | |
| ENST00000699238.1:c.277-1687_277-1686delinsCT | ENSP00000514227.1:n.277-1687_277-1686delinsCT | |
| ENST00000699239.1:n.743-1687_743-1686delinsCT | ||
| ENST00000699240.1:c.277-1687_277-1686delinsCT | ENSP00000514229.1:n.277-1687_277-1686delinsCT | |
| ENST00000699241.1:c.277-1687_277-1686delinsCT | ENSP00000514230.1:n.277-1687_277-1686delinsCT | |
| ENST00000699242.1:c.133-1687_133-1686delinsCT | ENSP00000514231.1:n.133-1687_133-1686delinsCT | |
| ENST00000699243.1:c.277-1687_277-1686delinsCT | ENSP00000514232.1:n.277-1687_277-1686delinsCT | |
| ENST00000699244.1:c.277-1687_277-1686delinsCT | ENSP00000514233.1:n.277-1687_277-1686delinsCT | |
| ENST00000699246.1:c.277-1687_277-1686delinsCT | ENSP00000514234.1:n.277-1687_277-1686delinsCT | |
| ENST00000699247.1:c.277-1687_277-1686delinsCT | ENSP00000514235.1:n.277-1687_277-1686delinsCT | |
| ENST00000699248.1:n.660_661delinsCT | ||
| ENST00000699249.1:c.277-1687_277-1686delinsCT | ENSP00000514236.1:n.277-1687_277-1686delinsCT | |
| ENST00000699250.1:c.277-1687_277-1686delinsCT | ENSP00000514237.1:n.277-1687_277-1686delinsCT | |
| ENST00000699251.1:c.277-1687_277-1686delinsCT | ENSP00000514238.1:n.277-1687_277-1686delinsCT | |
| ENST00000699252.1:n.827-1687_827-1686delinsCT | ||
| ENST00000699253.1:n.847-1687_847-1686delinsCT | ||
| ENST00000699254.1:n.620-1687_620-1686delinsCT | ||
| ENST00000699255.1:n.363-1687_363-1686delinsCT | ||
| ENST00000398145.7:c.277-1687_277-1686delinsCT MANE Select | ENSP00000381213.2:n.277-1687_277-1686delinsCT | |
| ENST00000336873.9:c.277-1687_277-1686delinsCT | ENSP00000338457.5:n.277-1687_277-1686delinsCT | |
| ENST00000398145.6:c.277-1687_277-1686delinsCT | ENSP00000381213.2:n.277-1687_277-1686delinsCT | |
| ENST00000402105.7:c.262-1687_262-1686delinsCT | ENSP00000384185.3:n.262-1687_262-1686delinsCT | |
| ENST00000422379.2:c.277-1687_277-1686delinsCT | ENSP00000415081.2:n.277-1687_277-1686delinsCT | |
| ENST00000429411.5:c.262-1687_262-1686delinsCT | ENSP00000399705.1:n.262-1687_262-1686delinsCT | |
| ENST00000439453.5:c.277-1687_277-1686delinsCT | ENSP00000406764.1:n.277-1687_277-1686delinsCT | |
| ENST00000459918.1:n.20-1687_20-1686delinsCT | ||
| ENST00000464362.5:c.262-1687_262-1686delinsCT | ENSP00000430291.1:n.262-1687_262-1686delinsCT | |
| ENST00000466781.5:n.848-1687_848-1686delinsCT | ||
| ENST00000496385.5:n.369-1687_369-1686delinsCT | ||
| NM_022081.5:c.277-1687_277-1686delinsCT , LRG_590t1:c.277-1687_277-1686delinsCT | NP_071364.4:n.277-1687_277-1686delinsCT | |
| NM_152841.2:c.262-1687_262-1686delinsCT , LRG_590t2:c.262-1687_262-1686delinsCT | NP_690054.1:n.262-1687_262-1686delinsCT | |
| NR_073135.1:n.854-1687_854-1686delinsCT | ||
| NR_073136.1:n.562-1687_562-1686delinsCT | ||
| XM_006724353.2:c.277-1687_277-1686delinsCT | XP_006724416.1:n.277-1687_277-1686delinsCT | |
| XM_006724354.2:c.277-1687_277-1686delinsCT | XP_006724417.1:n.277-1687_277-1686delinsCT | |
| XM_011530485.1:c.277-1687_277-1686delinsCT | XP_011528787.1:n.277-1687_277-1686delinsCT | |
| XM_011530486.1:c.277-1687_277-1686delinsCT | XP_011528788.1:n.277-1687_277-1686delinsCT | |
| XM_011530487.1:c.277-1687_277-1686delinsCT | XP_011528789.1:n.277-1687_277-1686delinsCT | |
| XM_011530488.1:c.277-1687_277-1686delinsCT | XP_011528790.1:n.277-1687_277-1686delinsCT | |
| XM_011530489.1:c.277-1687_277-1686delinsCT | XP_011528791.1:n.277-1687_277-1686delinsCT | |
| XM_011530490.1:c.277-1687_277-1686delinsCT | XP_011528792.1:n.277-1687_277-1686delinsCT | |
| XM_011530491.1:c.277-1687_277-1686delinsCT | XP_011528793.1:n.277-1687_277-1686delinsCT | |
| XM_011530492.1:c.277-1687_277-1686delinsCT | XP_011528794.1:n.277-1687_277-1686delinsCT | |
| XM_011530493.1:c.277-1687_277-1686delinsCT | XP_011528795.1:n.277-1687_277-1686delinsCT | |
| XM_011530494.1:c.-516-1687_-516-1686delinsCT | XP_011528796.1:n.-516-1687_-516-1686delinsCT | |
| XR_937947.1:n.936-1687_936-1686delinsCT | ||
| NM_001349896.1:c.277-1687_277-1686delinsCT | NP_001336825.1:n.277-1687_277-1686delinsCT | |
| NM_001349898.1:c.277-1687_277-1686delinsCT | NP_001336827.1:n.277-1687_277-1686delinsCT | |
| NM_001349899.1:c.277-1687_277-1686delinsCT | NP_001336828.1:n.277-1687_277-1686delinsCT | |
| NM_001349900.1:c.277-1687_277-1686delinsCT | NP_001336829.1:n.277-1687_277-1686delinsCT | |
| NM_001349901.1:c.277-1687_277-1686delinsCT | NP_001336830.1:n.277-1687_277-1686delinsCT | |
| NM_001349902.1:c.277-1687_277-1686delinsCT | NP_001336831.1:n.277-1687_277-1686delinsCT | |
| NM_001349903.1:c.277-1687_277-1686delinsCT | NP_001336832.1:n.277-1687_277-1686delinsCT | |
| NM_001349904.1:c.277-1687_277-1686delinsCT | NP_001336833.1:n.277-1687_277-1686delinsCT | |
| NM_001349905.1:c.277-1687_277-1686delinsCT | NP_001336834.1:n.277-1687_277-1686delinsCT | |
| NR_146311.1:n.945-1687_945-1686delinsCT | ||
| NR_146312.1:n.854-1687_854-1686delinsCT | ||
| NR_146313.1:n.874-1687_874-1686delinsCT | ||
| NR_146314.1:n.854-1687_854-1686delinsCT | ||
| NR_146315.1:n.945-1687_945-1686delinsCT | ||
| NR_146316.1:n.945-1687_945-1686delinsCT | ||
| XM_011530485.2:c.277-1687_277-1686delinsCT | XP_011528787.1:n.277-1687_277-1686delinsCT | |
| XM_011530486.2:c.277-1687_277-1686delinsCT | XP_011528788.1:n.277-1687_277-1686delinsCT | |
| XM_011530487.2:c.277-1687_277-1686delinsCT | XP_011528789.1:n.277-1687_277-1686delinsCT | |
| XM_011530488.2:c.277-1687_277-1686delinsCT | XP_011528790.1:n.277-1687_277-1686delinsCT | |
| XM_011530489.2:c.277-1687_277-1686delinsCT | XP_011528791.1:n.277-1687_277-1686delinsCT | |
| XM_011530490.3:c.277-1687_277-1686delinsCT | XP_011528792.1:n.277-1687_277-1686delinsCT | |
| XM_011530491.3:c.277-1687_277-1686delinsCT | XP_011528793.1:n.277-1687_277-1686delinsCT | |
| XM_011530492.2:c.277-1687_277-1686delinsCT | XP_011528794.1:n.277-1687_277-1686delinsCT | |
| XM_011530493.3:c.277-1687_277-1686delinsCT | XP_011528795.1:n.277-1687_277-1686delinsCT | |
| XM_011530494.2:c.-516-1687_-516-1686delinsCT | XP_011528796.1:n.-516-1687_-516-1686delinsCT | |
| XM_017029045.2:c.277-1687_277-1686delinsCT | XP_016884534.1:n.277-1687_277-1686delinsCT | |
| XM_017029046.2:c.277-1687_277-1686delinsCT | XP_016884535.1:n.277-1687_277-1686delinsCT | |
| XM_017029047.2:c.277-1687_277-1686delinsCT | XP_016884536.1:n.277-1687_277-1686delinsCT | |
| XM_017029052.2:c.-295-1687_-295-1686delinsCT | XP_016884541.1:n.-295-1687_-295-1686delinsCT | |
| XM_017029056.2:c.-695-1687_-695-1686delinsCT | XP_016884545.1:n.-695-1687_-695-1686delinsCT | |
| XM_017029061.2:c.-653-1687_-653-1686delinsCT | XP_016884550.1:n.-653-1687_-653-1686delinsCT | |
| XM_017029062.2:c.-519-1687_-519-1686delinsCT | XP_016884551.1:n.-519-1687_-519-1686delinsCT | |
| XM_017029063.2:c.-653-1687_-653-1686delinsCT | XP_016884552.1:n.-653-1687_-653-1686delinsCT | |
| XM_017029064.2:c.-519-1687_-519-1686delinsCT | XP_016884553.1:n.-519-1687_-519-1686delinsCT | |
| XM_024452298.1:c.-2639-1687_-2639-1686delinsCT | XP_024308066.1:n.-2639-1687_-2639-1686delinsCT | |
| XM_024452299.1:c.-1193-1687_-1193-1686delinsCT | XP_024308067.1:n.-1193-1687_-1193-1686delinsCT | |
| XM_024452300.1:c.-544-1687_-544-1686delinsCT | XP_024308068.1:n.-544-1687_-544-1686delinsCT | |
| XR_001755361.2:n.931-1687_931-1686delinsCT | ||
| XR_001755364.1:n.841-1687_841-1686delinsCT | ||
| XR_001755366.2:n.840-1687_840-1686delinsCT | ||
| XR_002958721.1:n.931-1687_931-1686delinsCT | ||
| XR_937947.2:n.931-1687_931-1686delinsCT | ||
| NM_001349898.2:c.277-1687_277-1686delinsCT | NP_001336827.1:n.277-1687_277-1686delinsCT | |
| NM_001349899.2:c.277-1687_277-1686delinsCT | NP_001336828.1:n.277-1687_277-1686delinsCT | |
| NM_001349900.2:c.277-1687_277-1686delinsCT | NP_001336829.1:n.277-1687_277-1686delinsCT | |
| NM_001349903.2:c.277-1687_277-1686delinsCT | NP_001336832.1:n.277-1687_277-1686delinsCT | |
| NM_001349904.2:c.277-1687_277-1686delinsCT | NP_001336833.1:n.277-1687_277-1686delinsCT | |
| NR_073136.2:n.369-1687_369-1686delinsCT | ||
| NR_146311.2:n.865-1687_865-1686delinsCT | ||
| NR_146313.2:n.794-1687_794-1686delinsCT | ||
| NR_146315.2:n.865-1687_865-1686delinsCT | ||
| NM_022081.6:c.277-1687_277-1686delinsCT MANE Select | NP_071364.4:n.277-1687_277-1686delinsCT | |
| NR_146316.2:n.865-1687_865-1686delinsCT |