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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.59193558_59193559insAAATCAATGACACTGAGCACAGAGTTATTGATGATTCCAAATCCCA , CM000667.2:g.59193558_59193559insAAATCAATGACACTGAGCACAGAGTTATTGATGATTCCAAATCCCA | GRCh38 |
| NC_000005.9:g.58489384_58489385insAAATCAATGACACTGAGCACAGAGTTATTGATGATTCCAAATCCCA , CM000667.1:g.58489384_58489385insAAATCAATGACACTGAGCACAGAGTTATTGATGATTCCAAATCCCA | GRCh37 |
| NC_000005.8:g.58525141_58525142insAAATCAATGACACTGAGCACAGAGTTATTGATGATTCCAAATCCCA | NCBI36 |
| NG_027957.1:g.1299541_1299542insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | |
| NG_027957.2:g.1335771_1335772insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507116.6:c.456-23_456-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | ENSP00000424852.1:n.456-23_456-22insTGGGATTTGGAATCATCAATAACTC... | |
| ENST00000340635.11:c.648-23_648-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT MANE Select | ENSP00000345502.6:n.648-23_648-22insTGGGATTTGGAATCATCAATAACTC... | |
| ENST00000636120.1:c.318-23_318-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | ENSP00000490821.1:n.318-23_318-22insTGGGATTTGGAATCATCAATAACTC... | |
| ENST00000638939.1:c.213-23_213-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | ENSP00000492052.1:n.213-23_213-22insTGGGATTTGGAATCATCAATAACTC... | |
| ENST00000309641.10:c.456-23_456-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | ENSP00000308485.6:n.456-23_456-22insTGGGATTTGGAATCATCAATAACTC... | |
| ENST00000340635.10:c.648-23_648-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | ENSP00000345502.6:n.648-23_648-22insTGGGATTTGGAATCATCAATAACTC... | |
| ENST00000360047.9:c.240-23_240-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | ENSP00000353152.5:n.240-23_240-22insTGGGATTTGGAATCATCAATAACTC... | |
| ENST00000405053.7:n.311-23_311-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | ||
| ENST00000405755.6:c.282-23_282-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | ENSP00000384806.2:n.282-23_282-22insTGGGATTTGGAATCATCAATAACTC... | |
| ENST00000502484.6:c.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | ENSP00000423094.2:n.465-23_465-22insTGGGATTTGGAATCATCAATAACTC... | |
| ENST00000502575.1:c.456-23_456-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | ENSP00000425917.1:n.456-23_456-22insTGGGATTTGGAATCATCAATAACTC... | |
| ENST00000503258.5:c.258-23_258-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | ENSP00000425605.1:n.258-23_258-22insTGGGATTTGGAATCATCAATAACTC... | |
| ENST00000505453.1:c.-98-154588_-98-154587insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | ENSP00000421013.1:n.-98-154588_-98-154587insTGGGATTTGGAATCATC... | |
| ENST00000507116.5:c.456-23_456-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | ENSP00000424852.1:n.456-23_456-22insTGGGATTTGGAATCATCAATAACTC... | |
| ENST00000515324.1:n.160-23_160-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | ||
| ENST00000546160.5:c.255-23_255-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | ENSP00000442734.2:n.255-23_255-22insTGGGATTTGGAATCATCAATAACTC... | |
| ENST00000621323.4:n.193-23_193-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | ||
| NM_001104631.1:c.648-23_648-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001098101.1:n.648-23_648-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001165899.1:c.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001159371.1:n.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001197218.1:c.456-23_456-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001184147.1:n.456-23_456-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001197219.1:c.282-23_282-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001184148.1:n.282-23_282-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001197220.1:c.258-23_258-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001184149.1:n.258-23_258-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_006203.4:c.240-23_240-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_006194.2:n.240-23_240-22insTGGGATTTGGAATCATCAATAACTCTGTGCT... | |
| XM_005248537.2:c.318-23_318-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_005248594.1:n.318-23_318-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| XM_005248538.3:c.240-23_240-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_005248595.1:n.240-23_240-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| XM_011543469.1:c.612-23_612-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_011541771.1:n.612-23_612-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| XM_011543470.1:c.612-23_612-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_011541772.1:n.612-23_612-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| XM_011543471.1:c.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_011541773.1:n.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| XM_011543472.1:c.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_011541774.1:n.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| XM_011543473.1:c.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_011541775.1:n.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| XM_011543474.1:c.435-23_435-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_011541776.1:n.435-23_435-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| XM_011543475.1:c.282-23_282-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_011541777.1:n.282-23_282-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| XM_011543476.1:c.228-23_228-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_011541778.1:n.228-23_228-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| XM_011543477.1:c.207-23_207-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_011541779.1:n.207-23_207-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| XM_011543478.1:c.144-23_144-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_011541780.1:n.144-23_144-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| XM_011543479.1:c.144-23_144-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_011541781.1:n.144-23_144-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001349241.1:c.435-23_435-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001336170.1:n.435-23_435-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001349242.1:c.318-23_318-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001336171.1:n.318-23_318-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001349243.1:c.-47-23_-47-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001336172.1:n.-47-23_-47-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001364599.1:c.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001351528.1:n.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001364600.1:c.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001351529.1:n.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001364602.1:c.456-23_456-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001351531.1:n.456-23_456-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001364603.1:c.-303-23_-303-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001351532.1:n.-303-23_-303-22insTGGGATTTGGAATCATCAATAACTCT... | |
| NM_001364604.1:c.-47-23_-47-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001351533.1:n.-47-23_-47-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| XM_011543470.2:c.612-23_612-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_011541772.1:n.612-23_612-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| XM_011543471.2:c.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_011541773.1:n.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| XM_017009565.1:c.612-23_612-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_016865054.1:n.612-23_612-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| XM_017009566.1:c.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_016865055.1:n.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| XM_017009567.1:c.450-23_450-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_016865056.1:n.450-23_450-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| XM_024446110.1:c.612-23_612-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_024301878.1:n.612-23_612-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| XM_024446112.1:c.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | XP_024301880.1:n.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001104631.2:c.648-23_648-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT MANE Select | NP_001098101.1:n.648-23_648-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001165899.2:c.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001159371.1:n.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001197218.2:c.456-23_456-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001184147.1:n.456-23_456-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001197219.2:c.282-23_282-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001184148.1:n.282-23_282-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001197220.2:c.258-23_258-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001184149.1:n.258-23_258-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001349241.2:c.435-23_435-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001336170.1:n.435-23_435-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001349243.2:c.-47-23_-47-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001336172.1:n.-47-23_-47-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001364600.2:c.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001351529.1:n.465-23_465-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001364602.2:c.456-23_456-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001351531.1:n.456-23_456-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_001349242.2:c.318-23_318-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_001336171.1:n.318-23_318-22insTGGGATTTGGAATCATCAATAACTCTGT... | |
| NM_006203.5:c.240-23_240-22insTGGGATTTGGAATCATCAATAACTCTGTGCTCAGTGTCATTGATTT | NP_006194.2:n.240-23_240-22insTGGGATTTGGAATCATCAATAACTCTGTGCT... |