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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38147558_38147559insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000684.2:g.38147558_38147559insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000022.10:g.38543565_38543566insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000684.1:g.38543565_38543566insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000022.9:g.36873511_36873512insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_007094.2:g.63152_63153insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | |
| NG_007094.3:g.72240_72241insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332509.8:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | ENSP00000333142.3:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000427114.6:c.-325-1886_-325-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000407743.2:n.-325-1886_-325-1885insAAAAAAAAAAAAAAAAAAA... | |
| ENST00000436218.6:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000401242.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000655142.1:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000499715.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000660610.1:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000499555.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000663895.1:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000499712.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000664587.1:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000499394.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000665987.1:c.210-64_210-63insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000499423.1:n.210-64_210-63insAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000667521.1:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000499665.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000668208.1:n.340-1886_340-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000668499.1:c.*40+954_*40+955insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000499626.1:n.*40+954_*40+955insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000668949.1:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000499711.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000671093.1:n.178-64_178-63insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000673413.1:c.*40+954_*40+955insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000500600.1:n.*40+954_*40+955insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000332509.7:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000333142.3:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000335539.7:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000335149.3:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000402064.5:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000386100.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000417303.6:c.*40+954_*40+955insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000404974.2:n.*40+954_*40+955insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000420435.5:n.432-64_432-63insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000426674.1:n.375-64_375-63insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000430886.5:c.210-4251_210-4250insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000395464.1:n.210-4251_210-4250insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000435484.5:c.*40+954_*40+955insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000413597.1:n.*40+954_*40+955insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000436218.5:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000401242.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000445591.5:n.259-1886_259-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000447598.6:c.*40+954_*40+955insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000393361.2:n.*40+954_*40+955insAAAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000452972.1:n.174-1886_174-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000455341.2:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000393761.2:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAA... | |
| ENST00000471636.5:n.286-1886_286-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000479641.5:n.136-1886_136-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| NM_001004426.1:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001004426.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001199562.1:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001186491.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_003560.2:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_003551.2:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_005261764.1:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_005261821.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_005261765.1:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_005261822.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_005261766.1:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_005261823.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_005261771.3:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_005261828.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_006724332.2:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_006724395.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_011530422.1:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_011528724.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_011530423.1:c.-326+954_-326+955insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_011528725.1:n.-326+954_-326+955insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_011530424.1:c.-451-64_-451-63insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_011528726.1:n.-451-64_-451-63insAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_011530425.1:c.-408-1886_-408-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_011528727.1:n.-408-1886_-408-1885insAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_011530426.1:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_011528728.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_011530427.1:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_011528729.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_011530428.1:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_011528730.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XR_244390.1:n.318-1886_318-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| XR_244392.1:n.318-1886_318-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| XR_430411.1:n.318-1886_318-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| XR_430412.1:n.318-1886_318-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| XR_937937.1:n.318-1886_318-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| XR_937938.1:n.318-1886_318-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| XR_937939.1:n.318-1886_318-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| XR_937940.1:n.318-1886_318-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| NM_001004426.2:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001004426.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001199562.2:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001186491.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001349864.1:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001336793.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001349865.1:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001336794.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001349866.1:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001336795.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001349867.1:c.-326+954_-326+955insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001336796.1:n.-326+954_-326+955insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001349868.1:c.-281-1886_-281-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001336797.1:n.-281-1886_-281-1885insAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001349869.1:c.-326+954_-326+955insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001336798.1:n.-326+954_-326+955insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_003560.3:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_003551.2:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_005261764.3:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_005261821.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_005261765.2:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_005261822.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_006724332.4:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_006724395.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_011530426.3:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_011528728.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_017028983.1:c.-451-64_-451-63insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_016884472.1:n.-451-64_-451-63insAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_017028986.2:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_016884475.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_017028987.2:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_016884476.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_017028988.2:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_016884477.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_024452280.1:c.-326+954_-326+955insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_024308048.1:n.-326+954_-326+955insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_024452281.1:c.-451-64_-451-63insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_024308049.1:n.-451-64_-451-63insAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_024452282.1:c.-325-1886_-325-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_024308050.1:n.-325-1886_-325-1885insAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_024452283.1:c.-281-1886_-281-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_024308051.1:n.-281-1886_-281-1885insAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_024452284.1:c.-326+954_-326+955insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_024308052.1:n.-326+954_-326+955insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XM_024452285.1:c.-451-64_-451-63insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_024308053.1:n.-451-64_-451-63insAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| XR_001755325.2:n.302-1886_302-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| XR_001755327.2:n.302-1886_302-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| XR_001755328.2:n.302-1886_302-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| XR_244390.3:n.302-1886_302-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| XR_937938.3:n.302-1886_302-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| XR_937939.3:n.302-1886_302-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| XR_937940.3:n.302-1886_302-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| NM_001199562.3:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001186491.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001349864.2:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001336793.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001349865.2:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001336794.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001349866.2:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001336795.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001349867.2:c.-326+954_-326+955insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001336796.1:n.-326+954_-326+955insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001349868.2:c.-281-1886_-281-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001336797.1:n.-281-1886_-281-1885insAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001349869.2:c.-326+954_-326+955insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001336798.1:n.-326+954_-326+955insAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_003560.4:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | NP_003551.2:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAA... | |
| NM_001004426.3:c.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001004426.1:n.210-1886_210-1885insAAAAAAAAAAAAAAAAAAAAAAAA... |