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.26475016_26475018delinsAAC , CM000684.2:g.26475016_26475018delinsAAC | GRCh38 |
| NC_000022.10:g.26870982_26870984delinsAAC , CM000684.1:g.26870982_26870984delinsAAC | GRCh37 |
| NC_000022.9:g.25200982_25200984delinsAAC | NCBI36 |
| NG_009763.2:g.13846_13848delinsGTT , LRG_590:g.13846_13848delinsGTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422379.3:c.276+1975_276+1977delinsGTT | ENSP00000415081.3:n.276+1975_276+1977delinsGTT | |
| ENST00000473782.2:c.276+1975_276+1977delinsGTT | ENSP00000514223.1:n.276+1975_276+1977delinsGTT | |
| ENST00000483631.2:c.-520+1975_-520+1977delinsGTT | ENSP00000514228.1:n.-520+1975_-520+1977delinsGTT | |
| ENST00000491142.2:c.276+1975_276+1977delinsGTT | ENSP00000514221.1:n.276+1975_276+1977delinsGTT | |
| ENST00000699227.1:c.276+1975_276+1977delinsGTT | ENSP00000514220.1:n.276+1975_276+1977delinsGTT | |
| ENST00000699228.1:n.826+1975_826+1977delinsGTT | ||
| ENST00000699234.1:c.261+1975_261+1977delinsGTT | ENSP00000514222.1:n.261+1975_261+1977delinsGTT | |
| ENST00000699235.1:c.-447+1975_-447+1977delinsGTT | ENSP00000514224.1:n.-447+1975_-447+1977delinsGTT | |
| ENST00000699236.1:c.276+1975_276+1977delinsGTT | ENSP00000514225.1:n.276+1975_276+1977delinsGTT | |
| ENST00000699237.1:c.276+1975_276+1977delinsGTT | ENSP00000514226.1:n.276+1975_276+1977delinsGTT | |
| ENST00000699238.1:c.276+1975_276+1977delinsGTT | ENSP00000514227.1:n.276+1975_276+1977delinsGTT | |
| ENST00000699239.1:n.742+1975_742+1977delinsGTT | ||
| ENST00000699240.1:c.276+1975_276+1977delinsGTT | ENSP00000514229.1:n.276+1975_276+1977delinsGTT | |
| ENST00000699241.1:c.276+1975_276+1977delinsGTT | ENSP00000514230.1:n.276+1975_276+1977delinsGTT | |
| ENST00000699242.1:c.133-2079_133-2077delinsGTT | ENSP00000514231.1:n.133-2079_133-2077delinsGTT | |
| ENST00000699243.1:c.276+1975_276+1977delinsGTT | ENSP00000514232.1:n.276+1975_276+1977delinsGTT | |
| ENST00000699244.1:c.276+1975_276+1977delinsGTT | ENSP00000514233.1:n.276+1975_276+1977delinsGTT | |
| ENST00000699246.1:c.276+1975_276+1977delinsGTT | ENSP00000514234.1:n.276+1975_276+1977delinsGTT | |
| ENST00000699247.1:c.276+1975_276+1977delinsGTT | ENSP00000514235.1:n.276+1975_276+1977delinsGTT | |
| ENST00000699248.1:n.268_270delinsGTT | ||
| ENST00000699249.1:c.276+1975_276+1977delinsGTT | ENSP00000514236.1:n.276+1975_276+1977delinsGTT | |
| ENST00000699250.1:c.276+1975_276+1977delinsGTT | ENSP00000514237.1:n.276+1975_276+1977delinsGTT | |
| ENST00000699251.1:c.276+1975_276+1977delinsGTT | ENSP00000514238.1:n.276+1975_276+1977delinsGTT | |
| ENST00000699252.1:n.826+1975_826+1977delinsGTT | ||
| ENST00000699253.1:n.846+1975_846+1977delinsGTT | ||
| ENST00000699254.1:n.619+1975_619+1977delinsGTT | ||
| ENST00000699255.1:n.362+1975_362+1977delinsGTT | ||
| ENST00000398145.7:c.276+1975_276+1977delinsGTT MANE Select | ENSP00000381213.2:n.276+1975_276+1977delinsGTT | |
| ENST00000336873.9:c.276+1975_276+1977delinsGTT | ENSP00000338457.5:n.276+1975_276+1977delinsGTT | |
| ENST00000398145.6:c.276+1975_276+1977delinsGTT | ENSP00000381213.2:n.276+1975_276+1977delinsGTT | |
| ENST00000402105.7:c.261+1975_261+1977delinsGTT | ENSP00000384185.3:n.261+1975_261+1977delinsGTT | |
| ENST00000422379.2:c.276+1975_276+1977delinsGTT | ENSP00000415081.2:n.276+1975_276+1977delinsGTT | |
| ENST00000429411.5:c.261+1975_261+1977delinsGTT | ENSP00000399705.1:n.261+1975_261+1977delinsGTT | |
| ENST00000439453.5:c.276+1975_276+1977delinsGTT | ENSP00000406764.1:n.276+1975_276+1977delinsGTT | |
| ENST00000459918.1:n.19+1975_19+1977delinsGTT | ||
| ENST00000464362.5:c.261+1975_261+1977delinsGTT | ENSP00000430291.1:n.261+1975_261+1977delinsGTT | |
| ENST00000466781.5:n.847+1975_847+1977delinsGTT | ||
| ENST00000496385.5:n.368+1975_368+1977delinsGTT | ||
| NM_022081.5:c.276+1975_276+1977delinsGTT , LRG_590t1:c.276+1975_276+1977delinsGTT | NP_071364.4:n.276+1975_276+1977delinsGTT | |
| NM_152841.2:c.261+1975_261+1977delinsGTT , LRG_590t2:c.261+1975_261+1977delinsGTT | NP_690054.1:n.261+1975_261+1977delinsGTT | |
| NR_073135.1:n.853+1975_853+1977delinsGTT | ||
| NR_073136.1:n.561+1975_561+1977delinsGTT | ||
| XM_006724353.2:c.276+1975_276+1977delinsGTT | XP_006724416.1:n.276+1975_276+1977delinsGTT | |
| XM_006724354.2:c.276+1975_276+1977delinsGTT | XP_006724417.1:n.276+1975_276+1977delinsGTT | |
| XM_011530485.1:c.276+1975_276+1977delinsGTT | XP_011528787.1:n.276+1975_276+1977delinsGTT | |
| XM_011530486.1:c.276+1975_276+1977delinsGTT | XP_011528788.1:n.276+1975_276+1977delinsGTT | |
| XM_011530487.1:c.276+1975_276+1977delinsGTT | XP_011528789.1:n.276+1975_276+1977delinsGTT | |
| XM_011530488.1:c.276+1975_276+1977delinsGTT | XP_011528790.1:n.276+1975_276+1977delinsGTT | |
| XM_011530489.1:c.276+1975_276+1977delinsGTT | XP_011528791.1:n.276+1975_276+1977delinsGTT | |
| XM_011530490.1:c.276+1975_276+1977delinsGTT | XP_011528792.1:n.276+1975_276+1977delinsGTT | |
| XM_011530491.1:c.276+1975_276+1977delinsGTT | XP_011528793.1:n.276+1975_276+1977delinsGTT | |
| XM_011530492.1:c.276+1975_276+1977delinsGTT | XP_011528794.1:n.276+1975_276+1977delinsGTT | |
| XM_011530493.1:c.276+1975_276+1977delinsGTT | XP_011528795.1:n.276+1975_276+1977delinsGTT | |
| XM_011530494.1:c.-517+1975_-517+1977delinsGTT | XP_011528796.1:n.-517+1975_-517+1977delinsGTT | |
| XR_937947.1:n.935+1975_935+1977delinsGTT | ||
| NM_001349896.1:c.276+1975_276+1977delinsGTT | NP_001336825.1:n.276+1975_276+1977delinsGTT | |
| NM_001349898.1:c.276+1975_276+1977delinsGTT | NP_001336827.1:n.276+1975_276+1977delinsGTT | |
| NM_001349899.1:c.276+1975_276+1977delinsGTT | NP_001336828.1:n.276+1975_276+1977delinsGTT | |
| NM_001349900.1:c.276+1975_276+1977delinsGTT | NP_001336829.1:n.276+1975_276+1977delinsGTT | |
| NM_001349901.1:c.276+1975_276+1977delinsGTT | NP_001336830.1:n.276+1975_276+1977delinsGTT | |
| NM_001349902.1:c.276+1975_276+1977delinsGTT | NP_001336831.1:n.276+1975_276+1977delinsGTT | |
| NM_001349903.1:c.276+1975_276+1977delinsGTT | NP_001336832.1:n.276+1975_276+1977delinsGTT | |
| NM_001349904.1:c.276+1975_276+1977delinsGTT | NP_001336833.1:n.276+1975_276+1977delinsGTT | |
| NM_001349905.1:c.276+1975_276+1977delinsGTT | NP_001336834.1:n.276+1975_276+1977delinsGTT | |
| NR_146311.1:n.944+1975_944+1977delinsGTT | ||
| NR_146312.1:n.853+1975_853+1977delinsGTT | ||
| NR_146313.1:n.873+1975_873+1977delinsGTT | ||
| NR_146314.1:n.853+1975_853+1977delinsGTT | ||
| NR_146315.1:n.944+1975_944+1977delinsGTT | ||
| NR_146316.1:n.944+1975_944+1977delinsGTT | ||
| XM_011530485.2:c.276+1975_276+1977delinsGTT | XP_011528787.1:n.276+1975_276+1977delinsGTT | |
| XM_011530486.2:c.276+1975_276+1977delinsGTT | XP_011528788.1:n.276+1975_276+1977delinsGTT | |
| XM_011530487.2:c.276+1975_276+1977delinsGTT | XP_011528789.1:n.276+1975_276+1977delinsGTT | |
| XM_011530488.2:c.276+1975_276+1977delinsGTT | XP_011528790.1:n.276+1975_276+1977delinsGTT | |
| XM_011530489.2:c.276+1975_276+1977delinsGTT | XP_011528791.1:n.276+1975_276+1977delinsGTT | |
| XM_011530490.3:c.276+1975_276+1977delinsGTT | XP_011528792.1:n.276+1975_276+1977delinsGTT | |
| XM_011530491.3:c.276+1975_276+1977delinsGTT | XP_011528793.1:n.276+1975_276+1977delinsGTT | |
| XM_011530492.2:c.276+1975_276+1977delinsGTT | XP_011528794.1:n.276+1975_276+1977delinsGTT | |
| XM_011530493.3:c.276+1975_276+1977delinsGTT | XP_011528795.1:n.276+1975_276+1977delinsGTT | |
| XM_011530494.2:c.-517+1975_-517+1977delinsGTT | XP_011528796.1:n.-517+1975_-517+1977delinsGTT | |
| XM_017029045.2:c.276+1975_276+1977delinsGTT | XP_016884534.1:n.276+1975_276+1977delinsGTT | |
| XM_017029046.2:c.276+1975_276+1977delinsGTT | XP_016884535.1:n.276+1975_276+1977delinsGTT | |
| XM_017029047.2:c.276+1975_276+1977delinsGTT | XP_016884536.1:n.276+1975_276+1977delinsGTT | |
| XM_017029052.2:c.-296+1975_-296+1977delinsGTT | XP_016884541.1:n.-296+1975_-296+1977delinsGTT | |
| XM_017029056.2:c.-696+1975_-696+1977delinsGTT | XP_016884545.1:n.-696+1975_-696+1977delinsGTT | |
| XM_017029061.2:c.-654+1975_-654+1977delinsGTT | XP_016884550.1:n.-654+1975_-654+1977delinsGTT | |
| XM_017029062.2:c.-520+1975_-520+1977delinsGTT | XP_016884551.1:n.-520+1975_-520+1977delinsGTT | |
| XM_017029063.2:c.-654+1975_-654+1977delinsGTT | XP_016884552.1:n.-654+1975_-654+1977delinsGTT | |
| XM_017029064.2:c.-520+1975_-520+1977delinsGTT | XP_016884553.1:n.-520+1975_-520+1977delinsGTT | |
| XM_024452298.1:c.-2640+1975_-2640+1977delinsGTT | XP_024308066.1:n.-2640+1975_-2640+1977delinsGTT | |
| XM_024452299.1:c.-1194+1975_-1194+1977delinsGTT | XP_024308067.1:n.-1194+1975_-1194+1977delinsGTT | |
| XM_024452300.1:c.-545+1975_-545+1977delinsGTT | XP_024308068.1:n.-545+1975_-545+1977delinsGTT | |
| XR_001755361.2:n.930+1975_930+1977delinsGTT | ||
| XR_001755364.1:n.840+1975_840+1977delinsGTT | ||
| XR_001755366.2:n.839+1975_839+1977delinsGTT | ||
| XR_002958721.1:n.930+1975_930+1977delinsGTT | ||
| XR_937947.2:n.930+1975_930+1977delinsGTT | ||
| NM_001349898.2:c.276+1975_276+1977delinsGTT | NP_001336827.1:n.276+1975_276+1977delinsGTT | |
| NM_001349899.2:c.276+1975_276+1977delinsGTT | NP_001336828.1:n.276+1975_276+1977delinsGTT | |
| NM_001349900.2:c.276+1975_276+1977delinsGTT | NP_001336829.1:n.276+1975_276+1977delinsGTT | |
| NM_001349903.2:c.276+1975_276+1977delinsGTT | NP_001336832.1:n.276+1975_276+1977delinsGTT | |
| NM_001349904.2:c.276+1975_276+1977delinsGTT | NP_001336833.1:n.276+1975_276+1977delinsGTT | |
| NR_073136.2:n.368+1975_368+1977delinsGTT | ||
| NR_146311.2:n.864+1975_864+1977delinsGTT | ||
| NR_146313.2:n.793+1975_793+1977delinsGTT | ||
| NR_146315.2:n.864+1975_864+1977delinsGTT | ||
| NM_022081.6:c.276+1975_276+1977delinsGTT MANE Select | NP_071364.4:n.276+1975_276+1977delinsGTT | |
| NR_146316.2:n.864+1975_864+1977delinsGTT |