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_000006.12:g.80168406_80168625delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG , CM000668.2:g.80168406_80168625delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | GRCh38 |
| NC_000006.11:g.80878123_80878342delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG , CM000668.1:g.80878123_80878342delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | GRCh37 |
| NC_000006.10:g.80934842_80935061delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | NCBI36 |
| NG_009775.1:g.66780_66999delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | |
| NG_009775.2:g.66780_66999delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.9:c.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG MANE Select | ENSP00000318351.5:n.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAG... | |
| ENST00000320393.8:c.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | ENSP00000318351.5:n.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAG... | |
| ENST00000356489.9:c.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | ENSP00000348880.5:n.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAG... | |
| ENST00000369760.8:c.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | ENSP00000358775.4:n.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAG... | |
| NM_000056.3:c.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | NP_000047.1:n.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAA... | |
| NM_183050.2:c.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | NP_898871.1:n.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAA... | |
| XM_005248756.3:c.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | XP_005248813.1:n.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAA... | |
| XM_006715542.2:c.268-469_268-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | XP_006715605.1:n.268-469_268-250delinsAAGGGAGGGAGGGAGGGAAGGAA... | |
| XM_011536023.1:c.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | XP_011534325.1:n.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAA... | |
| XM_011536024.1:c.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | XP_011534326.1:n.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAA... | |
| XM_011536025.1:c.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | XP_011534327.1:n.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAA... | |
| XM_011536026.1:c.268-469_268-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | XP_011534328.1:n.268-469_268-250delinsAAGGGAGGGAGGGAGGGAAGGAA... | |
| XM_011536027.1:c.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | XP_011534329.1:n.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAA... | |
| NM_000056.4:c.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | NP_000047.1:n.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAA... | |
| NM_001318975.1:c.268-469_268-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | NP_001305904.1:n.268-469_268-250delinsAAGGGAGGGAGGGAGGGAAGGAA... | |
| NM_183050.3:c.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | NP_898871.1:n.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAA... | |
| NR_134945.1:n.562-469_562-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | ||
| XM_005248756.5:c.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | XP_005248813.1:n.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAA... | |
| XM_011536023.3:c.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | XP_011534325.1:n.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAA... | |
| XM_011536024.3:c.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | XP_011534326.1:n.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAA... | |
| XM_011536025.3:c.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | XP_011534327.1:n.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAA... | |
| XR_001743546.2:n.508-469_508-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | ||
| XR_001743547.2:n.508-469_508-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | ||
| XR_001743548.2:n.508-469_508-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | ||
| XR_001743549.2:n.508-469_508-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | ||
| XR_002956292.1:n.508-469_508-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | ||
| NM_183050.4:c.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG MANE Select | NP_898871.1:n.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAA... | |
| NR_134945.2:n.501-469_501-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | ||
| NM_000056.5:c.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAAAGACTCATTGTGCCATGGGAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGG | NP_000047.1:n.478-469_478-250delinsAAGGGAGGGAGGGAGGGAAGGAAGAA... |