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.137762549_137762550insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC , CM000671.2:g.137762549_137762550insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | GRCh38 |
| NC_000009.11:g.140657001_140657002insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC , CM000671.1:g.140657001_140657002insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | GRCh37 |
| NC_000009.10:g.139776822_139776823insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | NCBI36 |
| NG_011776.1:g.148558_148559insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC MANE Select | ENSP00000417980.1:n.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTA... | |
| ENST00000629335.2:c.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | ENSP00000490056.1:n.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTA... | |
| ENST00000636027.1:c.1388-126_1388-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | ENSP00000489961.1:n.1388-126_1388-125insGCGGCCTGTCGTGTCCGATTA... | |
| ENST00000637161.1:c.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | ENSP00000490328.1:n.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTA... | |
| ENST00000637261.1:c.1542-126_1542-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | ENSP00000490815.1:n.1542-126_1542-125insGCGGCCTGTCGTGTCCGATTA... | |
| ENST00000637977.1:c.1447-126_1447-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | ||
| ENST00000638071.1:c.1129-126_1129-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | ||
| ENST00000640639.1:c.671-126_671-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | ENSP00000491823.1:n.671-126_671-125insGCGGCCTGTCGTGTCCGATTAGC... | |
| ENST00000371394.6:c.*1237-126_*1237-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | ENSP00000485945.1:n.*1237-126_*1237-125insGCGGCCTGTCGTGTCCGAT... | |
| ENST00000460843.5:c.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | ENSP00000417980.1:n.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTA... | |
| ENST00000462484.5:c.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | ENSP00000417328.1:n.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTA... | |
| ENST00000462942.3:c.359-126_359-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | ENSP00000436107.1:n.359-126_359-125insGCGGCCTGTCGTGTCCGATTAGC... | |
| ENST00000465566.2:c.194-126_194-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | ENSP00000486261.1:n.194-126_194-125insGCGGCCTGTCGTGTCCGATTAGC... | |
| ENST00000629808.2:c.595-126_595-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | ||
| NM_001145527.1:c.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | NP_001138999.1:n.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| NM_024757.4:c.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | NP_079033.4:n.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTAGCCTTT... | |
| XM_005266105.3:c.1493-126_1493-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_005266162.1:n.1493-126_1493-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_005266110.1:c.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_005266167.1:n.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_006717288.2:c.1484-126_1484-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_006717351.1:n.1484-126_1484-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_011519021.1:c.1511-126_1511-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_011517323.1:n.1511-126_1511-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_011519022.1:c.1508-126_1508-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_011517324.1:n.1508-126_1508-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_011519023.1:c.1490-126_1490-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_011517325.1:n.1490-126_1490-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_011519024.1:c.1433-126_1433-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_011517326.1:n.1433-126_1433-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_011519025.1:c.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_011517327.1:n.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_011519026.1:c.1511-126_1511-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_011517328.1:n.1511-126_1511-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_011519027.1:c.1511-126_1511-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_011517329.1:n.1511-126_1511-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_011519028.1:c.1511-126_1511-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_011517330.1:n.1511-126_1511-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_011519029.1:c.-68-126_-68-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_011517331.1:n.-68-126_-68-125insGCGGCCTGTCGTGTCCGATTAGCCTT... | |
| XM_011519033.1:c.1490-126_1490-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_011517335.1:n.1490-126_1490-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| NM_001354259.1:c.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | NP_001341188.1:n.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| NM_001354263.1:c.1481-126_1481-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | NP_001341192.1:n.1481-126_1481-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| NM_001354611.1:c.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | NP_001341540.1:n.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| NM_001354612.1:c.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | NP_001341541.1:n.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_005266105.5:c.1493-126_1493-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_005266162.1:n.1493-126_1493-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_011519021.3:c.1511-126_1511-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_011517323.1:n.1511-126_1511-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_011519022.3:c.1508-126_1508-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_011517324.1:n.1508-126_1508-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_011519023.3:c.1490-126_1490-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_011517325.1:n.1490-126_1490-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_011519029.3:c.-68-126_-68-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_011517331.1:n.-68-126_-68-125insGCGGCCTGTCGTGTCCGATTAGCCTT... | |
| XM_017015134.1:c.1487-126_1487-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_016870623.1:n.1487-126_1487-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_017015136.2:c.1403-126_1403-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_016870625.1:n.1403-126_1403-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_017015137.1:c.1388-126_1388-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_016870626.1:n.1388-126_1388-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_017015138.1:c.1388-126_1388-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_016870627.1:n.1388-126_1388-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_024447674.1:c.1331-126_1331-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_024303442.1:n.1331-126_1331-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_024447675.1:c.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_024303443.1:n.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_024447676.1:c.626-126_626-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_024303444.1:n.626-126_626-125insGCGGCCTGTCGTGTCCGATTAGCCTT... | |
| XM_024447677.1:c.626-126_626-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_024303445.1:n.626-126_626-125insGCGGCCTGTCGTGTCCGATTAGCCTT... | |
| XM_024447678.1:c.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_024303446.1:n.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_024447679.1:c.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_024303447.1:n.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| XM_024447680.1:c.1388-126_1388-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | XP_024303448.1:n.1388-126_1388-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| NM_024757.5:c.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC MANE Select | NP_079033.4:n.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTAGCCTTT... | |
| NM_001145527.2:c.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | NP_001138999.1:n.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| NM_001354259.2:c.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | NP_001341188.1:n.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| NM_001354263.2:c.1481-126_1481-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | NP_001341192.1:n.1481-126_1481-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| NM_001354611.2:c.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | NP_001341540.1:n.1502-126_1502-125insGCGGCCTGTCGTGTCCGATTAGCC... | |
| NM_001354612.2:c.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTAGCCTTTTGC | NP_001341541.1:n.1409-126_1409-125insGCGGCCTGTCGTGTCCGATTAGCC... |