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_000007.14:g.151568942_151568943insACCCTATCAGTGGGAATGCACTTTATATACTTACCCA , CM000669.2:g.151568942_151568943insACCCTATCAGTGGGAATGCACTTTATATACTTACCCA | GRCh38 |
| NC_000007.13:g.151266028_151266029insACCCTATCAGTGGGAATGCACTTTATATACTTACCCA , CM000669.1:g.151266028_151266029insACCCTATCAGTGGGAATGCACTTTATATACTTACCCA | GRCh37 |
| NC_000007.12:g.150896961_150896962insACCCTATCAGTGGGAATGCACTTTATATACTTACCCA | NCBI36 |
| NG_007486.1:g.313288_313289insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | |
| NG_007486.2:g.313289_313290insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478989.7:c.381-101_381-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000420645.3:n.381-101_381-100insTGGGTAAGTATATAAAGTGCATT... | |
| ENST00000652321.2:c.1104-101_1104-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000498886.2:n.1104-101_1104-100insTGGGTAAGTATATAAAGTGCA... | |
| ENST00000287878.9:c.1107-101_1107-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT MANE Select | ENSP00000287878.3:n.1107-101_1107-100insTGGGTAAGTATATAAAGTGCA... | |
| ENST00000476632.2:c.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000419493.2:n.384-101_384-100insTGGGTAAGTATATAAAGTGCATT... | |
| ENST00000478989.6:c.167-101_167-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ||
| ENST00000492843.6:c.732-101_732-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000419577.2:n.732-101_732-100insTGGGTAAGTATATAAAGTGCATT... | |
| ENST00000650851.1:n.601-101_601-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ||
| ENST00000650858.1:c.324-101_324-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000498384.1:n.324-101_324-100insTGGGTAAGTATATAAAGTGCATT... | |
| ENST00000650948.1:n.1222-101_1222-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ||
| ENST00000651188.1:c.*346+1228_*346+1229insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000498557.1:n.*346+1228_*346+1229insTGGGTAAGTATATAAAGTG... | |
| ENST00000651303.1:c.*426-101_*426-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000498428.1:n.*426-101_*426-100insTGGGTAAGTATATAAAGTGCA... | |
| ENST00000651378.1:c.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000499103.1:n.384-101_384-100insTGGGTAAGTATATAAAGTGCATT... | |
| ENST00000651764.1:c.975-101_975-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000498796.1:n.975-101_975-100insTGGGTAAGTATATAAAGTGCATT... | |
| ENST00000651836.1:c.875-101_875-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000499156.1:n.875-101_875-100insTGGGTAAGTATATAAAGTGCATT... | |
| ENST00000652047.1:c.972-101_972-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000499111.1:n.972-101_972-100insTGGGTAAGTATATAAAGTGCATT... | |
| ENST00000652136.1:n.840-101_840-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ||
| ENST00000652159.1:c.975-101_975-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000499025.1:n.975-101_975-100insTGGGTAAGTATATAAAGTGCATT... | |
| ENST00000652397.1:c.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000498351.1:n.384-101_384-100insTGGGTAAGTATATAAAGTGCATT... | |
| ENST00000287878.8:c.1107-101_1107-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000287878.3:n.1107-101_1107-100insTGGGTAAGTATATAAAGTGCA... | |
| ENST00000392801.6:c.975-101_975-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000376549.2:n.975-101_975-100insTGGGTAAGTATATAAAGTGCATT... | |
| ENST00000418337.6:c.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000387386.2:n.384-101_384-100insTGGGTAAGTATATAAAGTGCATT... | |
| ENST00000476632.1:c.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000419493.1:n.384-101_384-100insTGGGTAAGTATATAAAGTGCATT... | |
| ENST00000478989.5:c.159-101_159-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000420645.1:n.159-101_159-100insTGGGTAAGTATATAAAGTGCATT... | |
| ENST00000488258.5:c.*347-101_*347-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000420783.1:n.*347-101_*347-100insTGGGTAAGTATATAAAGTGCA... | |
| ENST00000492843.5:c.735-101_735-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | ENSP00000419577.1:n.735-101_735-100insTGGGTAAGTATATAAAGTGCATT... | |
| NM_001040633.1:c.975-101_975-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | NP_001035723.1:n.975-101_975-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| NM_001304527.1:c.732-101_732-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | NP_001291456.1:n.732-101_732-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| NM_001304531.1:c.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | NP_001291460.1:n.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| NM_016203.3:c.1107-101_1107-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | NP_057287.2:n.1107-101_1107-100insTGGGTAAGTATATAAAGTGCATTCCCA... | |
| NM_024429.1:c.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | NP_077747.1:n.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCCACT... | |
| XM_005250002.2:c.1107-101_1107-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_005250059.1:n.1107-101_1107-100insTGGGTAAGTATATAAAGTGCATTC... | |
| XM_005250004.2:c.975-101_975-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_005250061.1:n.975-101_975-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_005250006.3:c.735-101_735-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_005250063.1:n.735-101_735-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_006716021.2:c.1095-101_1095-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_006716084.1:n.1095-101_1095-100insTGGGTAAGTATATAAAGTGCATTC... | |
| XM_011516282.1:c.1092-101_1092-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_011514584.1:n.1092-101_1092-100insTGGGTAAGTATATAAAGTGCATTC... | |
| XM_011516283.1:c.1095-101_1095-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_011514585.1:n.1095-101_1095-100insTGGGTAAGTATATAAAGTGCATTC... | |
| XM_011516284.1:c.1092-101_1092-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_011514586.1:n.1092-101_1092-100insTGGGTAAGTATATAAAGTGCATTC... | |
| XM_011516285.1:c.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_011514587.1:n.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_011516286.1:c.360-101_360-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_011514588.1:n.360-101_360-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_011516287.1:c.324-101_324-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_011514589.1:n.324-101_324-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| NM_001363698.1:c.735-101_735-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | NP_001350627.1:n.735-101_735-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_005250002.4:c.1107-101_1107-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_005250059.1:n.1107-101_1107-100insTGGGTAAGTATATAAAGTGCATTC... | |
| XM_005250004.4:c.975-101_975-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_005250061.1:n.975-101_975-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_005250006.5:c.735-101_735-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_005250063.1:n.735-101_735-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_011516285.2:c.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_011514587.1:n.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_011516286.2:c.360-101_360-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_011514588.1:n.360-101_360-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_017012268.2:c.972-101_972-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_016867757.1:n.972-101_972-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_017012269.1:c.1104-101_1104-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_016867758.1:n.1104-101_1104-100insTGGGTAAGTATATAAAGTGCATTC... | |
| XM_017012270.1:c.975-101_975-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_016867759.1:n.975-101_975-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_017012271.2:c.972-101_972-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_016867760.1:n.972-101_972-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_017012272.1:c.972-101_972-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_016867761.1:n.972-101_972-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_017012274.2:c.381-101_381-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_016867763.1:n.381-101_381-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_017012275.2:c.324-101_324-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_016867764.1:n.324-101_324-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_017012276.2:c.381-101_381-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_016867765.1:n.381-101_381-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_017012277.2:c.360-101_360-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_016867766.1:n.360-101_360-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_017012278.1:c.324-101_324-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_016867767.1:n.324-101_324-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_017012279.2:c.324-101_324-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_016867768.1:n.324-101_324-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_017012280.2:c.324-101_324-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_016867769.1:n.324-101_324-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_017012281.2:c.324-101_324-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_016867770.1:n.324-101_324-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_024446786.1:c.975-101_975-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_024302554.1:n.975-101_975-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_024446787.1:c.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_024302555.1:n.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_024446788.1:c.381-101_381-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_024302556.1:n.381-101_381-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| XM_024446789.1:c.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | XP_024302557.1:n.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| NM_016203.4:c.1107-101_1107-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT MANE Select | NP_057287.2:n.1107-101_1107-100insTGGGTAAGTATATAAAGTGCATTCCCA... | |
| NM_001040633.2:c.975-101_975-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | NP_001035723.1:n.975-101_975-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| NM_001304527.2:c.732-101_732-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | NP_001291456.1:n.732-101_732-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| NM_001304531.2:c.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | NP_001291460.1:n.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| NM_001363698.2:c.735-101_735-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | NP_001350627.1:n.735-101_735-100insTGGGTAAGTATATAAAGTGCATTCCC... | |
| NM_024429.2:c.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCCACTGATAGGGT | NP_077747.1:n.384-101_384-100insTGGGTAAGTATATAAAGTGCATTCCCACT... |