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_000019.10:g.38584410_38584684delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC , CM000681.2:g.38584410_38584684delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC | GRCh38 |
| NC_000019.9:g.39075050_39075324delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC , CM000681.1:g.39075050_39075324delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC | GRCh37 |
| NC_000019.8:g.43766890_43767164delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC | NCBI36 |
| NG_008866.1:g.155711_155985delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC , LRG_766:g.155711_155985delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1583-533_1583-259delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC | ||
| ENST00000688602.1:c.2980-533_2980-259delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC | ||
| ENST00000689936.1:c.2952-533_2952-259delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC | ||
| ENST00000359596.8:c.14647-533_14647-259delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC MANE Select | ENSP00000352608.2:n.14647-533_14647-259delinsTCCATCCTGGCCCTGA... | |
| ENST00000355481.8:c.14632-533_14632-259delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC | ENSP00000347667.3:n.14632-533_14632-259delinsTCCATCCTGGCCCTGA... | |
| ENST00000359596.7:c.14647-533_14647-259delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC | ENSP00000352608.2:n.14647-533_14647-259delinsTCCATCCTGGCCCTGA... | |
| ENST00000360985.7:c.14629-533_14629-259delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC | ENSP00000354254.4:n.14629-533_14629-259delinsTCCATCCTGGCCCTGA... | |
| NM_000540.2:c.14647-533_14647-259delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC , LRG_766t1:c.14647-533_14647-259delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC | NP_000531.2:n.14647-533_14647-259delinsTCCATCCTGGCCCTGACCCCTC... | |
| NM_001042723.1:c.14632-533_14632-259delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC | NP_001036188.1:n.14632-533_14632-259delinsTCCATCCTGGCCCTGACCC... | |
| XM_006723317.1:c.14629-533_14629-259delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC | XP_006723380.1:n.14629-533_14629-259delinsTCCATCCTGGCCCTGACCC... | |
| XM_006723319.1:c.14614-533_14614-259delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC | XP_006723382.1:n.14614-533_14614-259delinsTCCATCCTGGCCCTGACCC... | |
| XM_011527204.1:c.14644-533_14644-259delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC | XP_011525506.1:n.14644-533_14644-259delinsTCCATCCTGGCCCTGACCC... | |
| XM_011527205.1:c.14560-533_14560-259delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC | XP_011525507.1:n.14560-533_14560-259delinsTCCATCCTGGCCCTGACCC... | |
| XM_006723317.2:c.14629-533_14629-259delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC | XP_006723380.1:n.14629-533_14629-259delinsTCCATCCTGGCCCTGACCC... | |
| XM_006723319.2:c.14614-533_14614-259delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC | XP_006723382.1:n.14614-533_14614-259delinsTCCATCCTGGCCCTGACCC... | |
| XM_011527205.2:c.14560-533_14560-259delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC | XP_011525507.1:n.14560-533_14560-259delinsTCCATCCTGGCCCTGACCC... | |
| NM_000540.3:c.14647-533_14647-259delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC MANE Select | NP_000531.2:n.14647-533_14647-259delinsTCCATCCTGGCCCTGACCCCTC... | |
| NM_001042723.2:c.14632-533_14632-259delinsTCCATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCACCCAACCTGGCCCTGACCCTTCTGCCTGTACCCCCCATTCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCATGCTAGCCCTGACCCCTCTCCCTGTGCCCCCCTATCCTGGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGATTCCCCTGCCAGTGCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCTTATCCTGGCCCTGACCCCTCTGCCTGTGCCCC | NP_001036188.1:n.14632-533_14632-259delinsTCCATCCTGGCCCTGACCC... |