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_000002.12:g.165994155_165994160delinsTAGGTAAGACAACCTACCATTTTG , CM000664.2:g.165994155_165994160delinsTAGGTAAGACAACCTACCATTTTG | GRCh38 |
| NC_000002.11:g.166850665_166850670delinsTAGGTAAGACAACCTACCATTTTG , CM000664.1:g.166850665_166850670delinsTAGGTAAGACAACCTACCATTTTG | GRCh37 |
| NC_000002.10:g.166558911_166558916delinsTAGGTAAGACAACCTACCATTTTG | NCBI36 |
| NG_011906.1:g.84480_84485delinsCAAAATGGTAGGTTGTCTTACCTA , LRG_8:g.84480_84485delinsCAAAATGGTAGGTTGTCTTACCTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689288.1:c.*2874_*2879delinsCAAAATGGTAGGTTGTCTTACCTA | ENSP00000509637.1:n.*2874_*2879delinsCAAAATGGTAGGTTGTCTTACCTA... | |
| ENST00000303395.9:c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA | ENSP00000303540.4:p.Ile1613ThrfsTer4 | |
| ENST00000635750.1:c.4805_4810delinsCAAAATGGTAGGTTGTCTTACCTA | ENSP00000490799.1:p.Ile1602ThrfsTer4 | |
| ENST00000635776.1:c.4805_4810delinsCAAAATGGTAGGTTGTCTTACCTA | ENSP00000490692.1:p.Ile1602ThrfsTer4 | |
| ENST00000636194.1:c.*2331_*2336delinsCAAAATGGTAGGTTGTCTTACCTA | ENSP00000490288.1:n.*2331_*2336delinsCAAAATGGTAGGTTGTCTTACCTA... | |
| ENST00000637038.1:c.1700_1705delinsCAAAATGGTAGGTTGTCTTACCTA | ||
| ENST00000637988.1:c.4805_4810delinsCAAAATGGTAGGTTGTCTTACCTA | ENSP00000490780.1:p.Ile1602ThrfsTer4 | |
| ENST00000640036.1:c.4805_4810delinsCAAAATGGTAGGTTGTCTTACCTA | ENSP00000491573.1:p.Ile1602ThrfsTer4 | |
| ENST00000641575.1:c.4802_4807delinsCAAAATGGTAGGTTGTCTTACCTA | ENSP00000492917.1:p.Ile1601ThrfsTer4 | |
| ENST00000641603.1:c.4556_4561delinsCAAAATGGTAGGTTGTCTTACCTA | ENSP00000492945.1:p.Ile1519ThrfsTer4 | |
| ENST00000641996.1:c.*4392_*4397delinsCAAAATGGTAGGTTGTCTTACCTA | ENSP00000493054.1:n.*4392_*4397delinsCAAAATGGTAGGTTGTCTTACCTA... | |
| ENST00000671940.1:c.*2781_*2786delinsCAAAATGGTAGGTTGTCTTACCTA | ENSP00000500336.1:n.*2781_*2786delinsCAAAATGGTAGGTTGTCTTACCTA... | |
| ENST00000673490.1:n.7311_7316delinsCAAAATGGTAGGTTGTCTTACCTA | ||
| ENST00000674923.1:c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA MANE Select | ENSP00000501589.1:p.Ile1613ThrfsTer4 | |
| ENST00000303395.8:c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA | ENSP00000303540.4:p.Ile1613ThrfsTer4 | |
| ENST00000375405.7:c.4805_4810delinsCAAAATGGTAGGTTGTCTTACCTA | ENSP00000364554.3:p.Ile1602ThrfsTer4 | |
| ENST00000409050.1:c.4754_4759delinsCAAAATGGTAGGTTGTCTTACCTA | ENSP00000386312.1:p.Ile1585ThrfsTer4 | |
| ENST00000423058.6:c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA | ENSP00000407030.2:p.Ile1613ThrfsTer4 | |
| NM_001165963.1:c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001159435.1:p.Ile1613ThrfsTer4 | |
| NM_001165964.1:c.4754_4759delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001159436.1:p.Ile1585ThrfsTer4 | |
| NM_001202435.1:c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001189364.1:p.Ile1613ThrfsTer4 | |
| NM_006920.4:c.4805_4810delinsCAAAATGGTAGGTTGTCTTACCTA , LRG_8t1:c.4805_4810delinsCAAAATGGTAGGTTGTCTTACCTA | NP_008851.3:p.Ile1602ThrfsTer4 | |
| NR_110598.1:n.176-21458_176-21453delinsTAGGTAAGACAACCTACCATTTTG | ||
| XM_011511598.1:c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA | XP_011509900.1:p.Ile1613ThrfsTer4 | |
| XM_011511599.1:c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA | XP_011509901.1:p.Ile1613ThrfsTer4 | |
| XM_011511600.1:c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA | XP_011509902.1:p.Ile1613ThrfsTer4 | |
| XM_011511601.1:c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA | XP_011509903.1:p.Ile1613ThrfsTer4 | |
| XM_011511602.1:c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA | XP_011509904.1:p.Ile1613ThrfsTer4 | |
| XM_011511603.1:c.4835_4840delinsCAAAATGGTAGGTTGTCTTACCTA | XP_011509905.1:p.Ile1612ThrfsTer4 | |
| XM_011511604.1:c.4805_4810delinsCAAAATGGTAGGTTGTCTTACCTA | XP_011509906.1:p.Ile1602ThrfsTer4 | |
| XM_011511605.1:c.4802_4807delinsCAAAATGGTAGGTTGTCTTACCTA | XP_011509907.1:p.Ile1601ThrfsTer4 | |
| XM_011511606.1:c.4754_4759delinsCAAAATGGTAGGTTGTCTTACCTA | XP_011509908.1:p.Ile1585ThrfsTer4 | |
| XM_011511607.1:c.4556_4561delinsCAAAATGGTAGGTTGTCTTACCTA | XP_011509909.1:p.Ile1519ThrfsTer4 | |
| NM_001165963.2:c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001159435.1:p.Ile1613ThrfsTer4 | |
| NM_001165964.2:c.4754_4759delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001159436.1:p.Ile1585ThrfsTer4 | |
| NM_001202435.2:c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001189364.1:p.Ile1613ThrfsTer4 | |
| NM_001353948.1:c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340877.1:p.Ile1613ThrfsTer4 | |
| NM_001353949.1:c.4805_4810delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340878.1:p.Ile1602ThrfsTer4 | |
| NM_001353950.1:c.4805_4810delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340879.1:p.Ile1602ThrfsTer4 | |
| NM_001353951.1:c.4805_4810delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340880.1:p.Ile1602ThrfsTer4 | |
| NM_001353952.1:c.4805_4810delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340881.1:p.Ile1602ThrfsTer4 | |
| NM_001353954.1:c.4802_4807delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340883.1:p.Ile1601ThrfsTer4 | |
| NM_001353955.1:c.4802_4807delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340884.1:p.Ile1601ThrfsTer4 | |
| NM_001353957.1:c.4754_4759delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340886.1:p.Ile1585ThrfsTer4 | |
| NM_001353958.1:c.4754_4759delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340887.1:p.Ile1585ThrfsTer4 | |
| NM_001353960.1:c.4751_4756delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340889.1:p.Ile1584ThrfsTer4 | |
| NM_001353961.1:c.2396_2401delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340890.1:p.Ile799ThrfsTer4 | |
| NM_006920.5:c.4805_4810delinsCAAAATGGTAGGTTGTCTTACCTA | NP_008851.3:p.Ile1602ThrfsTer4 | |
| NR_148667.1:n.5274_5279delinsCAAAATGGTAGGTTGTCTTACCTA | ||
| XR_001738883.1:n.5288_5293delinsCAAAATGGTAGGTTGTCTTACCTA | ||
| XR_001738884.1:n.5260_5265delinsCAAAATGGTAGGTTGTCTTACCTA | ||
| NM_001165963.3:c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001159435.1:p.Ile1613ThrfsTer4 | |
| NM_001165964.3:c.4754_4759delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001159436.1:p.Ile1585ThrfsTer4 | |
| NM_001202435.3:c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001189364.1:p.Ile1613ThrfsTer4 | |
| NM_001353948.2:c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340877.1:p.Ile1613ThrfsTer4 | |
| NM_001353949.2:c.4805_4810delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340878.1:p.Ile1602ThrfsTer4 | |
| NM_001353950.2:c.4805_4810delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340879.1:p.Ile1602ThrfsTer4 | |
| NM_001353951.2:c.4805_4810delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340880.1:p.Ile1602ThrfsTer4 | |
| NM_001353952.2:c.4805_4810delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340881.1:p.Ile1602ThrfsTer4 | |
| NM_001353954.2:c.4802_4807delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340883.1:p.Ile1601ThrfsTer4 | |
| NM_001353955.2:c.4802_4807delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340884.1:p.Ile1601ThrfsTer4 | |
| NM_001353957.2:c.4754_4759delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340886.1:p.Ile1585ThrfsTer4 | |
| NM_001353958.2:c.4754_4759delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340887.1:p.Ile1585ThrfsTer4 | |
| NM_001353960.2:c.4751_4756delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340889.1:p.Ile1584ThrfsTer4 | |
| NM_001353961.2:c.2396_2401delinsCAAAATGGTAGGTTGTCTTACCTA | NP_001340890.1:p.Ile799ThrfsTer4 | |
| NM_006920.6:c.4805_4810delinsCAAAATGGTAGGTTGTCTTACCTA | NP_008851.3:p.Ile1602ThrfsTer4 | |
| NR_148667.2:n.5255_5260delinsCAAAATGGTAGGTTGTCTTACCTA | ||
| NM_001165963.4:c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA MANE Select | NP_001159435.1:p.Ile1613ThrfsTer4 |