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_000014.9:g.20693854_20693855insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT , CM000676.2:g.20693854_20693855insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT | GRCh38 |
| NC_000014.8:g.21162013_21162014insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT , CM000676.1:g.21162013_21162014insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT | GRCh37 |
| NC_000014.7:g.20231853_20231854insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT | NCBI36 |
| NG_008717.2:g.14678_14679insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT , LRG_653:g.14678_14679insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT | |
| NG_033053.1:g.14642_14643insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397990.5:c.290_291insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (ANG) MANE Select | ENSP00000381077.4:p.Ser98GlyfsTer42 | |
| ENST00000555835.3:c.-17-5501_-17-5500insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (RNASE4) MANE Select | ENSP00000452245.1:n.-17-5501_-17-5500insAGGCAGGGTTAAGTATGGCTC... | |
| ENST00000336811.10:c.290_291insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (ANG) | ENSP00000336762.6:p.Ser98GlyfsTer42 | |
| ENST00000397990.4:c.290_291insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (ANG) | ENSP00000381077.4:p.Ser98GlyfsTer42 | |
| ENST00000397995.2:c.-17-5501_-17-5500insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (RNASE4) | ENSP00000381081.2:n.-17-5501_-17-5500insAGGCAGGGTTAAGTATGGCTC... | |
| ENST00000553909.1:c.86+204_86+205insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT | ENSP00000477037.1:n.86+204_86+205insAGGCAGGGTTAAGTATGGCTCGAAT... | |
| ENST00000554073.1:n.146-5012_146-5011insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (ANG) | ||
| ENST00000555597.1:c.-18+4980_-18+4981insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (RNASE4) | ENSP00000451624.1:n.-18+4980_-18+4981insAGGCAGGGTTAAGTATGGCTC... | |
| ENST00000555835.2:c.-17-5501_-17-5500insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (RNASE4) | ENSP00000452245.1:n.-17-5501_-17-5500insAGGCAGGGTTAAGTATGGCTC... | |
| NM_001097577.2:c.290_291insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (ANG) | NP_001091046.1:p.Ser98GlyfsTer42 | |
| NM_001145.4:c.290_291insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT , LRG_653t1:c.290_291insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (ANG) | NP_001136.1:p.Ser98GlyfsTer42 | |
| NM_001282192.1:c.-18+204_-18+205insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (RNASE4) | NP_001269121.1:n.-18+204_-18+205insAGGCAGGGTTAAGTATGGCTCGAATC... | |
| NM_001282193.1:c.-17-5501_-17-5500insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (RNASE4) | NP_001269122.1:n.-17-5501_-17-5500insAGGCAGGGTTAAGTATGGCTCGAA... | |
| NM_002937.4:c.-17-5501_-17-5500insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (RNASE4) | NP_002928.1:n.-17-5501_-17-5500insAGGCAGGGTTAAGTATGGCTCGAATCG... | |
| NM_194431.2:c.-18+4980_-18+4981insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (RNASE4) | NP_919412.1:n.-18+4980_-18+4981insAGGCAGGGTTAAGTATGGCTCGAATCG... | |
| NM_002937.5:c.-17-5501_-17-5500insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (RNASE4) MANE Select | NP_002928.1:n.-17-5501_-17-5500insAGGCAGGGTTAAGTATGGCTCGAATCG... | |
| NM_001097577.3:c.290_291insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (ANG) MANE Select | NP_001091046.1:p.Ser98GlyfsTer42 | |
| NM_001282192.2:c.-18+204_-18+205insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (RNASE4) | NP_001269121.1:n.-18+204_-18+205insAGGCAGGGTTAAGTATGGCTCGAATC... | |
| NM_001282193.2:c.-17-5501_-17-5500insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (RNASE4) | NP_001269122.1:n.-17-5501_-17-5500insAGGCAGGGTTAAGTATGGCTCGAA... | |
| NM_194431.3:c.-18+4980_-18+4981insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (RNASE4) | NP_919412.1:n.-18+4980_-18+4981insAGGCAGGGTTAAGTATGGCTCGAATCG... | |
| NM_001385271.1:c.290_291insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (ANG) | NP_001372200.1:p.Ser98GlyfsTer42 | |
| NM_001385272.1:c.290_291insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (ANG) | NP_001372201.1:p.Ser98GlyfsTer42 | |
| NM_001385273.1:c.290_291insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (ANG) | NP_001372202.1:p.Ser98GlyfsTer42 | |
| NM_001385274.1:c.290_291insAGGCAGGGTTAAGTATGGCTCGAATCGCAGGGGTAACAATCCCAGCAGAAAAGCAAGTTTGGATCGCTCTTACTTACATTTATGGTATTGGCGAAACAACTTCGCGAACCATCCTTGCGGCGGCTAAAATT (ANG) | NP_001372203.1:p.Ser98GlyfsTer42 | |
| NR_174964.1:n.467-106_467-105insAATTTTAGCCGCCGCAAGGATGGTTCGCGAAGTTGTTTCGCCAATACCATAAATGTAAGTAAGAGCGATCCAAACTTGCTTTTCTGCTGGGATTGTTACCCCTGCGATTCGAGCCATACTTAACCCTGCCT (EGILA) |