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_000009.12:g.137818519_137818520insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG , CM000671.2:g.137818519_137818520insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | GRCh38 |
| NC_000009.11:g.140712971_140712972insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG , CM000671.1:g.140712971_140712972insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | GRCh37 |
| NC_000009.10:g.139832792_139832793insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | NCBI36 |
| NG_011776.1:g.204528_204529insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3540+381_3540+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG MANE Select | ENSP00000417980.1:n.3540+381_3540+382insACGCCATGTACCGAGACTGTA... | |
| ENST00000636526.1:n.26+381_26+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | ||
| ENST00000637161.1:c.3447+381_3447+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | ENSP00000490328.1:n.3447+381_3447+382insACGCCATGTACCGAGACTGTA... | |
| ENST00000637261.1:c.4114+381_4114+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | ENSP00000490815.1:n.4114+381_4114+382insACGCCATGTACCGAGACTGTA... | |
| ENST00000637748.1:n.521+381_521+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | ||
| ENST00000637891.1:c.1614+381_1614+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | ENSP00000490907.1:n.1614+381_1614+382insACGCCATGTACCGAGACTGTA... | |
| ENST00000460843.5:c.3540+381_3540+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | ENSP00000417980.1:n.3540+381_3540+382insACGCCATGTACCGAGACTGTA... | |
| ENST00000462942.3:c.2397+381_2397+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | ENSP00000436107.1:n.2397+381_2397+382insACGCCATGTACCGAGACTGTA... | |
| ENST00000475564.5:n.1264+381_1264+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | ||
| ENST00000494249.5:n.893+381_893+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | ||
| NM_024757.4:c.3540+381_3540+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | NP_079033.4:n.3540+381_3540+382insACGCCATGTACCGAGACTGTAGAGAGG... | |
| XM_005266105.3:c.3531+381_3531+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_005266162.1:n.3531+381_3531+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_005266110.1:c.3447+381_3447+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_005266167.1:n.3447+381_3447+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_006717288.2:c.3522+381_3522+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_006717351.1:n.3522+381_3522+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_011519021.1:c.3549+381_3549+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_011517323.1:n.3549+381_3549+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_011519022.1:c.3546+381_3546+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_011517324.1:n.3546+381_3546+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_011519023.1:c.3528+381_3528+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_011517325.1:n.3528+381_3528+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_011519024.1:c.3471+381_3471+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_011517326.1:n.3471+381_3471+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_011519025.1:c.3447+381_3447+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_011517327.1:n.3447+381_3447+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_011519026.1:c.3405+381_3405+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_011517328.1:n.3405+381_3405+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_011519029.1:c.1971+381_1971+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_011517331.1:n.1971+381_1971+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_011519030.1:c.1323+381_1323+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_011517332.1:n.1323+381_1323+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_011519031.1:c.1110+381_1110+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_011517333.1:n.1110+381_1110+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_011519032.1:c.1110+381_1110+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_011517334.1:n.1110+381_1110+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_011519033.1:c.3384+381_3384+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_011517335.1:n.3384+381_3384+382insACGCCATGTACCGAGACTGTAGAG... | |
| XR_930459.1:n.5297-3919_5297-3918insCTCAATCGGCCTCTCTACAGTCTCGGTACATGGCGTCCCCCCTCAGCCTCTCTACAGTCTTGGTACACGGCGCCC | ||
| NM_001354263.1:c.3519+381_3519+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | NP_001341192.1:n.3519+381_3519+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_005266105.5:c.3531+381_3531+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_005266162.1:n.3531+381_3531+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_011519021.3:c.3549+381_3549+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_011517323.1:n.3549+381_3549+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_011519022.3:c.3546+381_3546+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_011517324.1:n.3546+381_3546+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_011519023.3:c.3528+381_3528+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_011517325.1:n.3528+381_3528+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_011519029.3:c.1971+381_1971+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_011517331.1:n.1971+381_1971+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_011519030.3:c.1323+381_1323+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_011517332.1:n.1323+381_1323+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_017015134.1:c.3525+381_3525+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_016870623.1:n.3525+381_3525+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_017015136.2:c.3441+381_3441+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_016870625.1:n.3441+381_3441+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_017015137.1:c.3426+381_3426+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_016870626.1:n.3426+381_3426+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_017015138.1:c.3426+381_3426+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_016870627.1:n.3426+381_3426+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_024447674.1:c.3369+381_3369+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_024303442.1:n.3369+381_3369+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_024447675.1:c.3303+381_3303+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_024303443.1:n.3303+381_3303+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_024447676.1:c.2664+381_2664+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_024303444.1:n.2664+381_2664+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_024447677.1:c.2664+381_2664+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_024303445.1:n.2664+381_2664+382insACGCCATGTACCGAGACTGTAGAG... | |
| XM_024447680.1:c.3282+381_3282+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | XP_024303448.1:n.3282+381_3282+382insACGCCATGTACCGAGACTGTAGAG... | |
| NM_024757.5:c.3540+381_3540+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG MANE Select | NP_079033.4:n.3540+381_3540+382insACGCCATGTACCGAGACTGTAGAGAGG... | |
| NM_001354263.2:c.3519+381_3519+382insACGCCATGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCAAGACTGTAGAGAGGCTGAGGGGGG | NP_001341192.1:n.3519+381_3519+382insACGCCATGTACCGAGACTGTAGAG... |