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_000005.10:g.59193496_59193497insAGAGAAAGTGACTTTGGCTATATTAATC , CM000667.2:g.59193496_59193497insAGAGAAAGTGACTTTGGCTATATTAATC | GRCh38 |
| NC_000005.9:g.58489322_58489323insAGAGAAAGTGACTTTGGCTATATTAATC , CM000667.1:g.58489322_58489323insAGAGAAAGTGACTTTGGCTATATTAATC | GRCh37 |
| NC_000005.8:g.58525079_58525080insAGAGAAAGTGACTTTGGCTATATTAATC | NCBI36 |
| NG_027957.1:g.1299603_1299604insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NG_027957.2:g.1335833_1335834insGATTAATATAGCCAAAGTCACTTTCTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507116.6:c.492+3_492+4insGATTAATATAGCCAAAGTCACTTTCTCT | ENSP00000424852.1:n.492+3_492+4insGATTAATATAGCCAAAGTCACTTTCTC... | |
| ENST00000340635.11:c.684+3_684+4insGATTAATATAGCCAAAGTCACTTTCTCT MANE Select | ENSP00000345502.6:n.684+3_684+4insGATTAATATAGCCAAAGTCACTTTCTC... | |
| ENST00000636120.1:c.354+3_354+4insGATTAATATAGCCAAAGTCACTTTCTCT | ENSP00000490821.1:n.354+3_354+4insGATTAATATAGCCAAAGTCACTTTCTC... | |
| ENST00000638939.1:c.249+3_249+4insGATTAATATAGCCAAAGTCACTTTCTCT | ENSP00000492052.1:n.249+3_249+4insGATTAATATAGCCAAAGTCACTTTCTC... | |
| ENST00000309641.10:c.492+3_492+4insGATTAATATAGCCAAAGTCACTTTCTCT | ENSP00000308485.6:n.492+3_492+4insGATTAATATAGCCAAAGTCACTTTCTC... | |
| ENST00000340635.10:c.684+3_684+4insGATTAATATAGCCAAAGTCACTTTCTCT | ENSP00000345502.6:n.684+3_684+4insGATTAATATAGCCAAAGTCACTTTCTC... | |
| ENST00000360047.9:c.276+3_276+4insGATTAATATAGCCAAAGTCACTTTCTCT | ENSP00000353152.5:n.276+3_276+4insGATTAATATAGCCAAAGTCACTTTCTC... | |
| ENST00000405053.7:n.347+3_347+4insGATTAATATAGCCAAAGTCACTTTCTCT | ||
| ENST00000405755.6:c.318+3_318+4insGATTAATATAGCCAAAGTCACTTTCTCT | ENSP00000384806.2:n.318+3_318+4insGATTAATATAGCCAAAGTCACTTTCTC... | |
| ENST00000502484.6:c.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | ENSP00000423094.2:n.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTC... | |
| ENST00000502575.1:c.492+3_492+4insGATTAATATAGCCAAAGTCACTTTCTCT | ENSP00000425917.1:n.492+3_492+4insGATTAATATAGCCAAAGTCACTTTCTC... | |
| ENST00000503258.5:c.294+3_294+4insGATTAATATAGCCAAAGTCACTTTCTCT | ENSP00000425605.1:n.294+3_294+4insGATTAATATAGCCAAAGTCACTTTCTC... | |
| ENST00000505453.1:c.-98-154526_-98-154525insGATTAATATAGCCAAAGTCACTTTCTCT | ENSP00000421013.1:n.-98-154526_-98-154525insGATTAATATAGCCAAAG... | |
| ENST00000507116.5:c.492+3_492+4insGATTAATATAGCCAAAGTCACTTTCTCT | ENSP00000424852.1:n.492+3_492+4insGATTAATATAGCCAAAGTCACTTTCTC... | |
| ENST00000515324.1:n.196+3_196+4insGATTAATATAGCCAAAGTCACTTTCTCT | ||
| ENST00000546160.5:c.291+3_291+4insGATTAATATAGCCAAAGTCACTTTCTCT | ENSP00000442734.2:n.291+3_291+4insGATTAATATAGCCAAAGTCACTTTCTC... | |
| ENST00000621323.4:n.229+3_229+4insGATTAATATAGCCAAAGTCACTTTCTCT | ||
| NM_001104631.1:c.684+3_684+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001098101.1:n.684+3_684+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001165899.1:c.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001159371.1:n.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001197218.1:c.492+3_492+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001184147.1:n.492+3_492+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001197219.1:c.318+3_318+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001184148.1:n.318+3_318+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001197220.1:c.294+3_294+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001184149.1:n.294+3_294+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_006203.4:c.276+3_276+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_006194.2:n.276+3_276+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_005248537.2:c.354+3_354+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_005248594.1:n.354+3_354+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_005248538.3:c.276+3_276+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_005248595.1:n.276+3_276+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_011543469.1:c.648+3_648+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_011541771.1:n.648+3_648+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_011543470.1:c.648+3_648+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_011541772.1:n.648+3_648+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_011543471.1:c.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_011541773.1:n.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_011543472.1:c.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_011541774.1:n.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_011543473.1:c.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_011541775.1:n.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_011543474.1:c.471+3_471+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_011541776.1:n.471+3_471+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_011543475.1:c.318+3_318+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_011541777.1:n.318+3_318+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_011543476.1:c.264+3_264+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_011541778.1:n.264+3_264+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_011543477.1:c.243+3_243+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_011541779.1:n.243+3_243+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_011543478.1:c.180+3_180+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_011541780.1:n.180+3_180+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_011543479.1:c.180+3_180+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_011541781.1:n.180+3_180+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001349241.1:c.471+3_471+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001336170.1:n.471+3_471+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001349242.1:c.354+3_354+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001336171.1:n.354+3_354+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001349243.1:c.-11+3_-11+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001336172.1:n.-11+3_-11+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001364599.1:c.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001351528.1:n.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001364600.1:c.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001351529.1:n.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001364602.1:c.492+3_492+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001351531.1:n.492+3_492+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001364603.1:c.-267+3_-267+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001351532.1:n.-267+3_-267+4insGATTAATATAGCCAAAGTCACTTTCTCT... | |
| NM_001364604.1:c.-11+3_-11+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001351533.1:n.-11+3_-11+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_011543470.2:c.648+3_648+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_011541772.1:n.648+3_648+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_011543471.2:c.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_011541773.1:n.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_017009565.1:c.648+3_648+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_016865054.1:n.648+3_648+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_017009566.1:c.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_016865055.1:n.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_017009567.1:c.486+3_486+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_016865056.1:n.486+3_486+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_024446110.1:c.648+3_648+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_024301878.1:n.648+3_648+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| XM_024446112.1:c.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | XP_024301880.1:n.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001104631.2:c.684+3_684+4insGATTAATATAGCCAAAGTCACTTTCTCT MANE Select | NP_001098101.1:n.684+3_684+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001165899.2:c.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001159371.1:n.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001197218.2:c.492+3_492+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001184147.1:n.492+3_492+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001197219.2:c.318+3_318+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001184148.1:n.318+3_318+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001197220.2:c.294+3_294+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001184149.1:n.294+3_294+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001349241.2:c.471+3_471+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001336170.1:n.471+3_471+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001349243.2:c.-11+3_-11+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001336172.1:n.-11+3_-11+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001364600.2:c.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001351529.1:n.501+3_501+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001364602.2:c.492+3_492+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001351531.1:n.492+3_492+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_001349242.2:c.354+3_354+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_001336171.1:n.354+3_354+4insGATTAATATAGCCAAAGTCACTTTCTCT | |
| NM_006203.5:c.276+3_276+4insGATTAATATAGCCAAAGTCACTTTCTCT | NP_006194.2:n.276+3_276+4insGATTAATATAGCCAAAGTCACTTTCTCT |