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_000022.11:g.38122954_38122964delinsCCCCGCCCCTG , CM000684.2:g.38122954_38122964delinsCCCCGCCCCTG | GRCh38 |
| NC_000022.10:g.38518961_38518971delinsCCCCGCCCCTG , CM000684.1:g.38518961_38518971delinsCCCCGCCCCTG | GRCh37 |
| NC_000022.9:g.36848907_36848917delinsCCCCGCCCCTG | NCBI36 |
| NG_007094.2:g.87727_87737delinsCAGGGGCGGGG | |
| NG_007094.3:g.96815_96825delinsCAGGGGCGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332509.8:c.1591+131_1591+141delinsCAGGGGCGGGG MANE Select | ENSP00000333142.3:n.1591+131_1591+141delinsCAGGGGCGGGG | |
| ENST00000427114.6:c.895+131_895+141delinsCAGGGGCGGGG | ENSP00000407743.2:n.895+131_895+141delinsCAGGGGCGGGG | |
| ENST00000436218.6:c.*789+131_*789+141delinsCAGGGGCGGGG | ENSP00000401242.1:n.*789+131_*789+141delinsCAGGGGCGGGG | |
| ENST00000655142.1:c.*449+131_*449+141delinsCAGGGGCGGGG | ENSP00000499715.1:n.*449+131_*449+141delinsCAGGGGCGGGG | |
| ENST00000660610.1:c.1591+131_1591+141delinsCAGGGGCGGGG | ENSP00000499555.1:n.1591+131_1591+141delinsCAGGGGCGGGG | |
| ENST00000663895.1:c.1591+131_1591+141delinsCAGGGGCGGGG | ENSP00000499712.1:n.1591+131_1591+141delinsCAGGGGCGGGG | |
| ENST00000664587.1:c.1453+131_1453+141delinsCAGGGGCGGGG | ENSP00000499394.1:n.1453+131_1453+141delinsCAGGGGCGGGG | |
| ENST00000665987.1:c.*1330+131_*1330+141delinsCAGGGGCGGGG | ENSP00000499423.1:n.*1330+131_*1330+141delinsCAGGGGCGGGG | |
| ENST00000667521.1:c.1591+131_1591+141delinsCAGGGGCGGGG | ENSP00000499665.1:n.1591+131_1591+141delinsCAGGGGCGGGG | |
| ENST00000668208.1:n.1559+131_1559+141delinsCAGGGGCGGGG | ||
| ENST00000668499.1:c.*1313+131_*1313+141delinsCAGGGGCGGGG | ENSP00000499626.1:n.*1313+131_*1313+141delinsCAGGGGCGGGG | |
| ENST00000668949.1:c.1429+131_1429+141delinsCAGGGGCGGGG | ENSP00000499711.1:n.1429+131_1429+141delinsCAGGGGCGGGG | |
| ENST00000671093.1:n.1523+131_1523+141delinsCAGGGGCGGGG | ||
| ENST00000673413.1:c.*1260+131_*1260+141delinsCAGGGGCGGGG | ENSP00000500600.1:n.*1260+131_*1260+141delinsCAGGGGCGGGG | |
| ENST00000332509.7:c.1591+131_1591+141delinsCAGGGGCGGGG | ENSP00000333142.3:n.1591+131_1591+141delinsCAGGGGCGGGG | |
| ENST00000335539.7:c.1429+131_1429+141delinsCAGGGGCGGGG | ENSP00000335149.3:n.1429+131_1429+141delinsCAGGGGCGGGG | |
| ENST00000402064.5:c.1429+131_1429+141delinsCAGGGGCGGGG | ENSP00000386100.1:n.1429+131_1429+141delinsCAGGGGCGGGG | |
| ENST00000448094.5:c.*196+131_*196+141delinsCAGGGGCGGGG | ENSP00000407106.1:n.*196+131_*196+141delinsCAGGGGCGGGG | |
| ENST00000454670.1:c.236+131_236+141delinsCAGGGGCGGGG | ||
| ENST00000491986.1:n.602+131_602+141delinsCAGGGGCGGGG | ||
| NM_001004426.1:c.1429+131_1429+141delinsCAGGGGCGGGG | NP_001004426.1:n.1429+131_1429+141delinsCAGGGGCGGGG | |
| NM_001199562.1:c.1429+131_1429+141delinsCAGGGGCGGGG | NP_001186491.1:n.1429+131_1429+141delinsCAGGGGCGGGG | |
| NM_003560.2:c.1591+131_1591+141delinsCAGGGGCGGGG | NP_003551.2:n.1591+131_1591+141delinsCAGGGGCGGGG | |
| XM_005261764.1:c.1591+131_1591+141delinsCAGGGGCGGGG | XP_005261821.1:n.1591+131_1591+141delinsCAGGGGCGGGG | |
| XM_005261765.1:c.1591+131_1591+141delinsCAGGGGCGGGG | XP_005261822.1:n.1591+131_1591+141delinsCAGGGGCGGGG | |
| XM_005261766.1:c.1591+131_1591+141delinsCAGGGGCGGGG | XP_005261823.1:n.1591+131_1591+141delinsCAGGGGCGGGG | |
| XM_006724332.2:c.1591+131_1591+141delinsCAGGGGCGGGG | XP_006724395.1:n.1591+131_1591+141delinsCAGGGGCGGGG | |
| XM_011530422.1:c.1486+131_1486+141delinsCAGGGGCGGGG | XP_011528724.1:n.1486+131_1486+141delinsCAGGGGCGGGG | |
| XM_011530423.1:c.1057+131_1057+141delinsCAGGGGCGGGG | XP_011528725.1:n.1057+131_1057+141delinsCAGGGGCGGGG | |
| XM_011530424.1:c.1057+131_1057+141delinsCAGGGGCGGGG | XP_011528726.1:n.1057+131_1057+141delinsCAGGGGCGGGG | |
| XM_011530425.1:c.1057+131_1057+141delinsCAGGGGCGGGG | XP_011528727.1:n.1057+131_1057+141delinsCAGGGGCGGGG | |
| XM_011530426.1:c.1591+131_1591+141delinsCAGGGGCGGGG | XP_011528728.1:n.1591+131_1591+141delinsCAGGGGCGGGG | |
| XR_244390.1:n.1699+131_1699+141delinsCAGGGGCGGGG | ||
| XR_244392.1:n.1752+131_1752+141delinsCAGGGGCGGGG | ||
| XR_430411.1:n.1751+131_1751+141delinsCAGGGGCGGGG | ||
| XR_430412.1:n.1804+131_1804+141delinsCAGGGGCGGGG | ||
| XR_937937.1:n.1699+131_1699+141delinsCAGGGGCGGGG | ||
| XR_937938.1:n.1699+131_1699+141delinsCAGGGGCGGGG | ||
| XR_937939.1:n.1751+131_1751+141delinsCAGGGGCGGGG | ||
| XR_937940.1:n.1751+131_1751+141delinsCAGGGGCGGGG | ||
| NM_001004426.2:c.1429+131_1429+141delinsCAGGGGCGGGG | NP_001004426.1:n.1429+131_1429+141delinsCAGGGGCGGGG | |
| NM_001199562.2:c.1429+131_1429+141delinsCAGGGGCGGGG | NP_001186491.1:n.1429+131_1429+141delinsCAGGGGCGGGG | |
| NM_001349864.1:c.1591+131_1591+141delinsCAGGGGCGGGG | NP_001336793.1:n.1591+131_1591+141delinsCAGGGGCGGGG | |
| NM_001349865.1:c.1429+131_1429+141delinsCAGGGGCGGGG | NP_001336794.1:n.1429+131_1429+141delinsCAGGGGCGGGG | |
| NM_001349866.1:c.1429+131_1429+141delinsCAGGGGCGGGG | NP_001336795.1:n.1429+131_1429+141delinsCAGGGGCGGGG | |
| NM_001349867.1:c.1057+131_1057+141delinsCAGGGGCGGGG | NP_001336796.1:n.1057+131_1057+141delinsCAGGGGCGGGG | |
| NM_001349868.1:c.913+131_913+141delinsCAGGGGCGGGG | NP_001336797.1:n.913+131_913+141delinsCAGGGGCGGGG | |
| NM_001349869.1:c.895+131_895+141delinsCAGGGGCGGGG | NP_001336798.1:n.895+131_895+141delinsCAGGGGCGGGG | |
| NM_003560.3:c.1591+131_1591+141delinsCAGGGGCGGGG | NP_003551.2:n.1591+131_1591+141delinsCAGGGGCGGGG | |
| XM_005261764.3:c.1591+131_1591+141delinsCAGGGGCGGGG | XP_005261821.1:n.1591+131_1591+141delinsCAGGGGCGGGG | |
| XM_005261765.2:c.1591+131_1591+141delinsCAGGGGCGGGG | XP_005261822.1:n.1591+131_1591+141delinsCAGGGGCGGGG | |
| XM_006724332.4:c.1591+131_1591+141delinsCAGGGGCGGGG | XP_006724395.1:n.1591+131_1591+141delinsCAGGGGCGGGG | |
| XM_011530426.3:c.1591+131_1591+141delinsCAGGGGCGGGG | XP_011528728.1:n.1591+131_1591+141delinsCAGGGGCGGGG | |
| XM_017028983.1:c.895+131_895+141delinsCAGGGGCGGGG | XP_016884472.1:n.895+131_895+141delinsCAGGGGCGGGG | |
| XM_017028986.2:c.1429+131_1429+141delinsCAGGGGCGGGG | XP_016884475.1:n.1429+131_1429+141delinsCAGGGGCGGGG | |
| XM_024452280.1:c.1057+131_1057+141delinsCAGGGGCGGGG | XP_024308048.1:n.1057+131_1057+141delinsCAGGGGCGGGG | |
| XM_024452281.1:c.1057+131_1057+141delinsCAGGGGCGGGG | XP_024308049.1:n.1057+131_1057+141delinsCAGGGGCGGGG | |
| XM_024452282.1:c.1057+131_1057+141delinsCAGGGGCGGGG | XP_024308050.1:n.1057+131_1057+141delinsCAGGGGCGGGG | |
| XM_024452283.1:c.913+131_913+141delinsCAGGGGCGGGG | XP_024308051.1:n.913+131_913+141delinsCAGGGGCGGGG | |
| XM_024452284.1:c.895+131_895+141delinsCAGGGGCGGGG | XP_024308052.1:n.895+131_895+141delinsCAGGGGCGGGG | |
| XM_024452285.1:c.895+131_895+141delinsCAGGGGCGGGG | XP_024308053.1:n.895+131_895+141delinsCAGGGGCGGGG | |
| XR_001755325.2:n.1683+131_1683+141delinsCAGGGGCGGGG | ||
| XR_001755327.2:n.1683+131_1683+141delinsCAGGGGCGGGG | ||
| XR_001755328.2:n.1735+131_1735+141delinsCAGGGGCGGGG | ||
| XR_244390.3:n.1683+131_1683+141delinsCAGGGGCGGGG | ||
| XR_937938.3:n.1683+131_1683+141delinsCAGGGGCGGGG | ||
| XR_937939.3:n.1735+131_1735+141delinsCAGGGGCGGGG | ||
| XR_937940.3:n.1735+131_1735+141delinsCAGGGGCGGGG | ||
| NM_001199562.3:c.1429+131_1429+141delinsCAGGGGCGGGG | NP_001186491.1:n.1429+131_1429+141delinsCAGGGGCGGGG | |
| NM_001349864.2:c.1591+131_1591+141delinsCAGGGGCGGGG | NP_001336793.1:n.1591+131_1591+141delinsCAGGGGCGGGG | |
| NM_001349865.2:c.1429+131_1429+141delinsCAGGGGCGGGG | NP_001336794.1:n.1429+131_1429+141delinsCAGGGGCGGGG | |
| NM_001349866.2:c.1429+131_1429+141delinsCAGGGGCGGGG | NP_001336795.1:n.1429+131_1429+141delinsCAGGGGCGGGG | |
| NM_001349867.2:c.1057+131_1057+141delinsCAGGGGCGGGG | NP_001336796.1:n.1057+131_1057+141delinsCAGGGGCGGGG | |
| NM_001349868.2:c.913+131_913+141delinsCAGGGGCGGGG | NP_001336797.1:n.913+131_913+141delinsCAGGGGCGGGG | |
| NM_001349869.2:c.895+131_895+141delinsCAGGGGCGGGG | NP_001336798.1:n.895+131_895+141delinsCAGGGGCGGGG | |
| NM_003560.4:c.1591+131_1591+141delinsCAGGGGCGGGG MANE Select | NP_003551.2:n.1591+131_1591+141delinsCAGGGGCGGGG | |
| NM_001004426.3:c.1429+131_1429+141delinsCAGGGGCGGGG | NP_001004426.1:n.1429+131_1429+141delinsCAGGGGCGGGG |