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 allow 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 allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
dbSNP Id:
rs1449432256
gnomAD v2:
5-96097808-TAGAGAAG-T
gnomAD v3:
5-96762104-TAGAGAAG-T
gnomAD v4:
5-96762104-TAGAGAAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96762106_96762112del , CM000667.2:g.96762106_96762112del | GRCh38 |
| NC_000005.9:g.96097810_96097816del , CM000667.1:g.96097810_96097816del | GRCh37 |
| NC_000005.8:g.96123566_96123572del | NCBI36 |
| NG_027839.1:g.57034_57040del | |
| NG_029490.1:g.105070_105076del | |
| NG_027839.2:g.178873_178879del | |
| NG_029490.2:g.105070_105076del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000484552.6:c.754-168_754-162del (CAST) | ENSP00000432878.2:n.754-168_754-162del | |
| ENST00000508608.6:c.1684-168_1684-162del (CAST) | ENSP00000422677.2:n.1684-168_1684-162del | |
| ENST00000510756.6:c.1462-168_1462-162del (CAST) | ENSP00000422176.2:n.1462-168_1462-162del | |
| ENST00000674587.1:c.1291-168_1291-162del (CAST) | ENSP00000501797.1:n.1291-168_1291-162del | |
| ENST00000674702.1:c.1576-168_1576-162del (CAST) | ENSP00000502345.1:n.1576-168_1576-162del | |
| ENST00000674984.1:c.1768-168_1768-162del (CAST) | ENSP00000501713.1:n.1768-168_1768-162del | |
| ENST00000675033.1:c.1462-168_1462-162del (CAST) | ENSP00000501659.1:n.1462-168_1462-162del | |
| ENST00000675179.1:c.1834-168_1834-162del (CAST) MANE Select | ENSP00000501872.1:n.1834-168_1834-162del | |
| ENST00000675185.1:c.215-168_215-162del (CAST) | ||
| ENST00000675266.1:c.1736-168_1736-162del (CAST) | ||
| ENST00000675267.1:c.*1458-168_*1458-162del (CAST) | ENSP00000502095.1:n.*1458-168_*1458-162del | |
| ENST00000675275.1:c.551-168_551-162del (CAST) | ||
| ENST00000675479.1:c.1447-168_1447-162del (CAST) | ENSP00000502244.1:n.1447-168_1447-162del | |
| ENST00000675614.1:c.1504-168_1504-162del (CAST) | ENSP00000502136.1:n.1504-168_1504-162del | |
| ENST00000675663.1:c.1723-168_1723-162del (CAST) | ENSP00000502449.1:n.1723-168_1723-162del | |
| ENST00000675734.1:n.378-168_378-162del (CAST) | ||
| ENST00000675858.1:c.1378-168_1378-162del (CAST) | ENSP00000501780.1:n.1378-168_1378-162del | |
| ENST00000296754.7:c.*1089_*1095del (ERAP1) | ENSP00000296754.3:n.*1089_*1095del | |
| ENST00000309190.9:c.1519-168_1519-162del (CAST) | ENSP00000312523.5:n.1519-168_1519-162del | |
| ENST00000325674.11:c.754-168_754-162del (CAST) | ENSP00000320319.8:n.754-168_754-162del | |
| ENST00000338252.7:c.1546-168_1546-162del (CAST) | ENSP00000343421.3:n.1546-168_1546-162del | |
| ENST00000341926.7:c.1585-168_1585-162del (CAST) | ENSP00000339914.3:n.1585-168_1585-162del | |
| ENST00000348386.7:n.1527-168_1527-162del (CAST) | ||
| ENST00000395812.6:c.1711-168_1711-162del (CAST) | ENSP00000379157.2:n.1711-168_1711-162del | |
| ENST00000395813.5:c.1585-168_1585-162del (CAST) | ENSP00000379158.2:n.1585-168_1585-162del | |
| ENST00000437034.6:c.840-168_840-162del (CAST) | ||
| ENST00000484552.5:c.812-168_812-162del (CAST) | ||
| ENST00000504465.5:c.1369-168_1369-162del (CAST) | ENSP00000425670.1:n.1369-168_1369-162del | |
| ENST00000508579.5:c.730-168_730-162del (CAST) | ENSP00000425787.1:n.730-168_730-162del | |
| ENST00000508608.5:c.1723-168_1723-162del (CAST) | ENSP00000422677.1:n.1723-168_1723-162del | |
| ENST00000508830.5:c.1834-168_1834-162del (CAST) | ENSP00000425721.1:n.1834-168_1834-162del | |
| ENST00000509903.5:c.1480-168_1480-162del (CAST) | ENSP00000426946.1:n.1480-168_1480-162del | |
| ENST00000510098.1:c.70-168_70-162del (CAST) | ENSP00000427195.1:n.70-168_70-162del | |
| ENST00000510156.5:c.1585-168_1585-162del (CAST) | ENSP00000422325.1:n.1585-168_1585-162del | |
| ENST00000510500.5:c.857-168_857-162del (CAST) | ||
| ENST00000510756.5:c.1768-168_1768-162del (CAST) | ENSP00000422176.1:n.1768-168_1768-162del | |
| ENST00000511049.5:c.1543-168_1543-162del (CAST) | ENSP00000421130.1:n.1543-168_1543-162del | |
| ENST00000511782.5:c.1543-168_1543-162del (CAST) | ENSP00000423638.1:n.1543-168_1543-162del | |
| ENST00000515663.5:c.754-168_754-162del (CAST) | ENSP00000422929.1:n.754-168_754-162del | |
| NM_001042440.3:c.1711-168_1711-162del (CAST) | NP_001035905.1:n.1711-168_1711-162del | |
| NM_001190442.1:c.1546-168_1546-162del (CAST) | NP_001177371.1:n.1546-168_1546-162del | |
| NM_001284212.1:c.1462-168_1462-162del (CAST) | NP_001271141.1:n.1462-168_1462-162del | |
| NM_001284213.1:c.1369-168_1369-162del (CAST) | NP_001271142.1:n.1369-168_1369-162del | |
| NM_016442.3:c.*1089_*1095del (ERAP1) | NP_057526.3:n.*1089_*1095del | |
| NM_173060.3:c.1519-168_1519-162del (CAST) | NP_775083.1:n.1519-168_1519-162del | |
| NR_104285.1:n.841-168_841-162del (CAST) | ||
| XM_006714696.2:c.1834-168_1834-162del (CAST) | XP_006714759.1:n.1834-168_1834-162del | |
| XM_006714697.2:c.1834-168_1834-162del (CAST) | XP_006714760.1:n.1834-168_1834-162del | |
| XM_006714698.2:c.1795-168_1795-162del (CAST) | XP_006714761.1:n.1795-168_1795-162del | |
| XM_006714699.2:c.1789-168_1789-162del (CAST) | XP_006714762.1:n.1789-168_1789-162del | |
| XM_006714700.2:c.1777-168_1777-162del (CAST) | XP_006714763.1:n.1777-168_1777-162del | |
| XM_006714701.2:c.1768-168_1768-162del (CAST) | XP_006714764.1:n.1768-168_1768-162del | |
| XM_006714702.2:c.1732-168_1732-162del (CAST) | XP_006714765.1:n.1732-168_1732-162del | |
| XM_006714703.2:c.1729-168_1729-162del (CAST) | XP_006714766.1:n.1729-168_1729-162del | |
| XM_006714704.2:c.1723-168_1723-162del (CAST) | XP_006714767.1:n.1723-168_1723-162del | |
| XM_006714705.2:c.1711-168_1711-162del (CAST) | XP_006714768.1:n.1711-168_1711-162del | |
| XM_006714706.2:c.1666-168_1666-162del (CAST) | XP_006714769.1:n.1666-168_1666-162del | |
| XM_006714707.2:c.1585-168_1585-162del (CAST) | XP_006714770.1:n.1585-168_1585-162del | |
| XM_006714708.2:c.1546-168_1546-162del (CAST) | XP_006714771.1:n.1546-168_1546-162del | |
| XM_006714709.2:c.1528-168_1528-162del (CAST) | XP_006714772.1:n.1528-168_1528-162del | |
| XM_006714710.2:c.1480-168_1480-162del (CAST) | XP_006714773.1:n.1480-168_1480-162del | |
| XM_006714711.2:c.1462-168_1462-162del (CAST) | XP_006714774.1:n.1462-168_1462-162del | |
| XM_006714712.2:c.1423-168_1423-162del (CAST) | XP_006714775.1:n.1423-168_1423-162del | |
| XM_006714713.2:c.754-168_754-162del (CAST) | XP_006714776.1:n.754-168_754-162del | |
| XM_006714714.2:c.754-168_754-162del (CAST) | XP_006714777.1:n.754-168_754-162del | |
| XM_006714715.2:c.730-168_730-162del (CAST) | XP_006714778.1:n.730-168_730-162del | |
| XM_011543654.1:c.1753-168_1753-162del (CAST) | XP_011541956.1:n.1753-168_1753-162del | |
| XM_011543655.1:c.1750-168_1750-162del (CAST) | XP_011541957.1:n.1750-168_1750-162del | |
| XM_011543656.1:c.1687-168_1687-162del (CAST) | XP_011541958.1:n.1687-168_1687-162del | |
| XM_011543657.1:c.1642-168_1642-162del (CAST) | XP_011541959.1:n.1642-168_1642-162del | |
| XM_011543658.1:c.1438-168_1438-162del (CAST) | XP_011541960.1:n.1438-168_1438-162del | |
| NM_001042440.4:c.1711-168_1711-162del (CAST) | NP_001035905.1:n.1711-168_1711-162del | |
| NM_001042441.2:c.1777-168_1777-162del (CAST) | NP_001035906.1:n.1777-168_1777-162del | |
| NM_001042442.2:c.1768-168_1768-162del (CAST) | NP_001035907.1:n.1768-168_1768-162del | |
| NM_001042443.2:c.1585-168_1585-162del (CAST) | NP_001035908.1:n.1585-168_1585-162del | |
| NM_001042444.2:c.1462-168_1462-162del (CAST) | NP_001035909.1:n.1462-168_1462-162del | |
| NM_001042445.2:c.1480-168_1480-162del (CAST) | NP_001035910.1:n.1480-168_1480-162del | |
| NM_001042446.2:c.1423-168_1423-162del (CAST) | NP_001035911.1:n.1423-168_1423-162del | |
| NM_001284212.3:c.1462-168_1462-162del (CAST) | NP_001271141.1:n.1462-168_1462-162del | |
| NM_001284213.3:c.1369-168_1369-162del (CAST) | NP_001271142.1:n.1369-168_1369-162del | |
| NM_001330626.1:c.1738-168_1738-162del (CAST) | NP_001317555.1:n.1738-168_1738-162del | |
| NM_001330627.1:c.1711-168_1711-162del (CAST) | NP_001317556.1:n.1711-168_1711-162del | |
| NM_001330628.1:c.1666-168_1666-162del (CAST) | NP_001317557.1:n.1666-168_1666-162del | |
| NM_001330629.1:c.1750-168_1750-162del (CAST) | NP_001317558.1:n.1750-168_1750-162del | |
| NM_001330630.1:c.1423-168_1423-162del (CAST) | NP_001317559.1:n.1423-168_1423-162del | |
| NM_001330631.1:c.1546-168_1546-162del (CAST) | NP_001317560.1:n.1546-168_1546-162del | |
| NM_001330632.1:c.1519-168_1519-162del (CAST) | NP_001317561.1:n.1519-168_1519-162del | |
| NM_001330633.1:c.1528-168_1528-162del (CAST) | NP_001317562.1:n.1528-168_1528-162del | |
| NM_001330634.1:c.1489-168_1489-162del (CAST) | NP_001317563.1:n.1489-168_1489-162del | |
| NM_001349244.1:c.*1089_*1095del (ERAP1) | NP_001336173.1:n.*1089_*1095del | |
| NM_001750.6:c.1834-168_1834-162del (CAST) | NP_001741.4:n.1834-168_1834-162del | |
| NM_016442.4:c.*1089_*1095del (ERAP1) | NP_057526.3:n.*1089_*1095del | |
| NM_173060.4:c.1519-168_1519-162del (CAST) | NP_775083.1:n.1519-168_1519-162del | |
| XR_001742119.2:n.4074_4080del (ERAP1) | ||
| NM_001042440.5:c.1711-168_1711-162del (CAST) | NP_001035905.1:n.1711-168_1711-162del | |
| NM_001042441.3:c.1777-168_1777-162del (CAST) | NP_001035906.1:n.1777-168_1777-162del | |
| NM_001042442.3:c.1768-168_1768-162del (CAST) | NP_001035907.1:n.1768-168_1768-162del | |
| NM_001330626.2:c.1738-168_1738-162del (CAST) | NP_001317555.1:n.1738-168_1738-162del | |
| NM_001330627.2:c.1711-168_1711-162del (CAST) | NP_001317556.1:n.1711-168_1711-162del | |
| NM_001330628.2:c.1666-168_1666-162del (CAST) | NP_001317557.1:n.1666-168_1666-162del | |
| NM_001330629.2:c.1750-168_1750-162del (CAST) | NP_001317558.1:n.1750-168_1750-162del | |
| NM_001375317.1:c.1723-168_1723-162del (CAST) | NP_001362246.1:n.1723-168_1723-162del | |
| NM_001750.7:c.1834-168_1834-162del (CAST) MANE Select | NP_001741.4:n.1834-168_1834-162del | |
| NR_104285.2:n.779-168_779-162del (CAST) | ||
| NM_001042443.3:c.1585-168_1585-162del (CAST) | NP_001035908.1:n.1585-168_1585-162del | |
| NM_001042444.3:c.1462-168_1462-162del (CAST) | NP_001035909.1:n.1462-168_1462-162del | |
| NM_001042445.3:c.1480-168_1480-162del (CAST) | NP_001035910.1:n.1480-168_1480-162del | |
| NM_001042446.3:c.1423-168_1423-162del (CAST) | NP_001035911.1:n.1423-168_1423-162del | |
| NM_001190442.2:c.1546-168_1546-162del (CAST) | NP_001177371.1:n.1546-168_1546-162del | |
| NM_001284212.4:c.1462-168_1462-162del (CAST) | NP_001271141.1:n.1462-168_1462-162del | |
| NM_001284213.4:c.1369-168_1369-162del (CAST) | NP_001271142.1:n.1369-168_1369-162del | |
| NM_001330630.2:c.1423-168_1423-162del (CAST) | NP_001317559.1:n.1423-168_1423-162del | |
| NM_001330631.2:c.1546-168_1546-162del (CAST) | NP_001317560.1:n.1546-168_1546-162del | |
| NM_001330632.2:c.1519-168_1519-162del (CAST) | NP_001317561.1:n.1519-168_1519-162del | |
| NM_001330633.2:c.1528-168_1528-162del (CAST) | NP_001317562.1:n.1528-168_1528-162del | |
| NM_001330634.2:c.1489-168_1489-162del (CAST) | NP_001317563.1:n.1489-168_1489-162del | |
| NM_001349244.2:c.*1089_*1095del (ERAP1) | NP_001336173.1:n.*1089_*1095del | |
| NM_016442.5:c.*1089_*1095del (ERAP1) | NP_057526.3:n.*1089_*1095del | |
| NM_173060.5:c.1519-168_1519-162del (CAST) | NP_775083.1:n.1519-168_1519-162del |