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_000004.12:g.158645438_158645456delinsTACTACAAATAAAATTGCA , CM000666.2:g.158645438_158645456delinsTACTACAAATAAAATTGCA | GRCh38 |
| NC_000004.11:g.159566590_159566608delinsTACTACAAATAAAATTGCA , CM000666.1:g.159566590_159566608delinsTACTACAAATAAAATTGCA | GRCh37 |
| NC_000004.10:g.159786040_159786058delinsTACTACAAATAAAATTGCA | NCBI36 |
| NG_031835.1:g.128725_128743delinsTACTACAAATAAAATTGCA | |
| NG_031835.2:g.128725_128743delinsTACTACAAATAAAATTGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307765.10:c.1345+300_1345+318delinsTACTACAAATAAAATTGCA MANE Select | ENSP00000303248.5:n.1345+300_1345+318delinsTACTACAAATAAAATTGC... | |
| ENST00000307765.9:c.1345+300_1345+318delinsTACTACAAATAAAATTGCA | ENSP00000303248.5:n.1345+300_1345+318delinsTACTACAAATAAAATTGC... | |
| ENST00000342048.9:c.*955+300_*955+318delinsTACTACAAATAAAATTGCA | ENSP00000432036.1:n.*955+300_*955+318delinsTACTACAAATAAAATTGC... | |
| ENST00000343542.9:c.1201+300_1201+318delinsTACTACAAATAAAATTGCA | ENSP00000345889.5:n.1201+300_1201+318delinsTACTACAAATAAAATTGC... | |
| ENST00000423548.5:c.1426+300_1426+318delinsTACTACAAATAAAATTGCA | ENSP00000405841.2:n.1426+300_1426+318delinsTACTACAAATAAAATTGC... | |
| ENST00000448688.6:c.877+300_877+318delinsTACTACAAATAAAATTGCA | ENSP00000414885.3:n.877+300_877+318delinsTACTACAAATAAAATTGCA | |
| ENST00000460056.6:c.1102+300_1102+318delinsTACTACAAATAAAATTGCA | ENSP00000423306.1:n.1102+300_1102+318delinsTACTACAAATAAAATTGC... | |
| ENST00000470033.2:c.1246+300_1246+318delinsTACTACAAATAAAATTGCA | ENSP00000420712.1:n.1246+300_1246+318delinsTACTACAAATAAAATTGC... | |
| ENST00000471616.5:c.1398+300_1398+318delinsTACTACAAATAAAATTGCA | ENSP00000434475.1:n.1398+300_1398+318delinsTACTACAAATAAAATTGC... | |
| ENST00000613319.4:c.952+300_952+318delinsTACTACAAATAAAATTGCA | ENSP00000480522.1:n.952+300_952+318delinsTACTACAAATAAAATTGCA | |
| NM_001253727.1:c.1426+300_1426+318delinsTACTACAAATAAAATTGCA | NP_001240656.1:n.1426+300_1426+318delinsTACTACAAATAAAATTGCA | |
| NM_001253728.1:c.1246+300_1246+318delinsTACTACAAATAAAATTGCA | NP_001240657.1:n.1246+300_1246+318delinsTACTACAAATAAAATTGCA | |
| NM_001253729.1:c.1201+300_1201+318delinsTACTACAAATAAAATTGCA | NP_001240658.1:n.1201+300_1201+318delinsTACTACAAATAAAATTGCA | |
| NM_001253730.1:c.952+300_952+318delinsTACTACAAATAAAATTGCA | NP_001240659.1:n.952+300_952+318delinsTACTACAAATAAAATTGCA | |
| NM_001253732.1:c.949+300_949+318delinsTACTACAAATAAAATTGCA | NP_001240661.1:n.949+300_949+318delinsTACTACAAATAAAATTGCA | |
| NM_001253733.1:c.877+300_877+318delinsTACTACAAATAAAATTGCA | NP_001240662.1:n.877+300_877+318delinsTACTACAAATAAAATTGCA | |
| NM_021634.3:c.1345+300_1345+318delinsTACTACAAATAAAATTGCA | NP_067647.2:n.1345+300_1345+318delinsTACTACAAATAAAATTGCA | |
| NR_045579.1:n.2225+300_2225+318delinsTACTACAAATAAAATTGCA | ||
| NR_045580.1:n.1661+300_1661+318delinsTACTACAAATAAAATTGCA | ||
| NR_045581.1:n.1632+300_1632+318delinsTACTACAAATAAAATTGCA | ||
| NR_045582.1:n.1569+300_1569+318delinsTACTACAAATAAAATTGCA | ||
| NR_045583.1:n.1548+300_1548+318delinsTACTACAAATAAAATTGCA | ||
| NR_045584.1:n.1661+300_1661+318delinsTACTACAAATAAAATTGCA | ||
| XM_011532174.1:c.1423+300_1423+318delinsTACTACAAATAAAATTGCA | XP_011530476.1:n.1423+300_1423+318delinsTACTACAAATAAAATTGCA | |
| XM_011532175.1:c.1354+300_1354+318delinsTACTACAAATAAAATTGCA | XP_011530477.1:n.1354+300_1354+318delinsTACTACAAATAAAATTGCA | |
| XM_011532176.1:c.1273+300_1273+318delinsTACTACAAATAAAATTGCA | XP_011530478.1:n.1273+300_1273+318delinsTACTACAAATAAAATTGCA | |
| XM_011532177.1:c.1183+300_1183+318delinsTACTACAAATAAAATTGCA | XP_011530479.1:n.1183+300_1183+318delinsTACTACAAATAAAATTGCA | |
| XM_011532178.1:c.1183+300_1183+318delinsTACTACAAATAAAATTGCA | XP_011530480.1:n.1183+300_1183+318delinsTACTACAAATAAAATTGCA | |
| XM_011532179.1:c.1196+6107_1196+6125delinsTACTACAAATAAAATTGCA | XP_011530481.1:n.1196+6107_1196+6125delinsTACTACAAATAAAATTGCA... | |
| NM_001363776.1:c.1102+300_1102+318delinsTACTACAAATAAAATTGCA | NP_001350705.1:n.1102+300_1102+318delinsTACTACAAATAAAATTGCA | |
| XM_011532176.2:c.1273+300_1273+318delinsTACTACAAATAAAATTGCA | XP_011530478.1:n.1273+300_1273+318delinsTACTACAAATAAAATTGCA | |
| XM_011532179.2:c.1196+6107_1196+6125delinsTACTACAAATAAAATTGCA | XP_011530481.1:n.1196+6107_1196+6125delinsTACTACAAATAAAATTGCA... | |
| XM_017008517.1:c.1351+300_1351+318delinsTACTACAAATAAAATTGCA | XP_016864006.1:n.1351+300_1351+318delinsTACTACAAATAAAATTGCA | |
| XM_017008518.2:c.1342+300_1342+318delinsTACTACAAATAAAATTGCA | XP_016864007.1:n.1342+300_1342+318delinsTACTACAAATAAAATTGCA | |
| XM_017008519.1:c.1183+300_1183+318delinsTACTACAAATAAAATTGCA | XP_016864008.1:n.1183+300_1183+318delinsTACTACAAATAAAATTGCA | |
| XM_017008520.1:c.1183+300_1183+318delinsTACTACAAATAAAATTGCA | XP_016864009.1:n.1183+300_1183+318delinsTACTACAAATAAAATTGCA | |
| XM_017008522.1:c.1099+300_1099+318delinsTACTACAAATAAAATTGCA | XP_016864011.1:n.1099+300_1099+318delinsTACTACAAATAAAATTGCA | |
| XM_017008523.2:c.1115+6107_1115+6125delinsTACTACAAATAAAATTGCA | XP_016864012.1:n.1115+6107_1115+6125delinsTACTACAAATAAAATTGCA... | |
| XM_017008524.2:c.1043+6107_1043+6125delinsTACTACAAATAAAATTGCA | XP_016864013.1:n.1043+6107_1043+6125delinsTACTACAAATAAAATTGCA... | |
| XM_017008525.1:c.1016+6107_1016+6125delinsTACTACAAATAAAATTGCA | XP_016864014.1:n.1016+6107_1016+6125delinsTACTACAAATAAAATTGCA... | |
| XM_017008526.1:c.877+300_877+318delinsTACTACAAATAAAATTGCA | XP_016864015.1:n.877+300_877+318delinsTACTACAAATAAAATTGCA | |
| NM_021634.4:c.1345+300_1345+318delinsTACTACAAATAAAATTGCA MANE Select | NP_067647.2:n.1345+300_1345+318delinsTACTACAAATAAAATTGCA | |
| NM_001253728.2:c.1246+300_1246+318delinsTACTACAAATAAAATTGCA | NP_001240657.1:n.1246+300_1246+318delinsTACTACAAATAAAATTGCA | |
| NM_001253729.2:c.1201+300_1201+318delinsTACTACAAATAAAATTGCA | NP_001240658.1:n.1201+300_1201+318delinsTACTACAAATAAAATTGCA | |
| NM_001253732.2:c.949+300_949+318delinsTACTACAAATAAAATTGCA | NP_001240661.1:n.949+300_949+318delinsTACTACAAATAAAATTGCA | |
| NR_045579.2:n.2057+300_2057+318delinsTACTACAAATAAAATTGCA | ||
| NR_045580.2:n.1493+300_1493+318delinsTACTACAAATAAAATTGCA | ||
| NR_045581.2:n.1464+300_1464+318delinsTACTACAAATAAAATTGCA | ||
| NR_045582.2:n.1401+300_1401+318delinsTACTACAAATAAAATTGCA | ||
| NR_045583.2:n.1380+300_1380+318delinsTACTACAAATAAAATTGCA | ||
| NR_045584.2:n.1493+300_1493+318delinsTACTACAAATAAAATTGCA | ||
| NM_001253727.2:c.1426+300_1426+318delinsTACTACAAATAAAATTGCA | NP_001240656.1:n.1426+300_1426+318delinsTACTACAAATAAAATTGCA | |
| NM_001253730.2:c.952+300_952+318delinsTACTACAAATAAAATTGCA | NP_001240659.1:n.952+300_952+318delinsTACTACAAATAAAATTGCA | |
| NM_001253733.2:c.877+300_877+318delinsTACTACAAATAAAATTGCA | NP_001240662.1:n.877+300_877+318delinsTACTACAAATAAAATTGCA |