Canonical Allele Identifier: CA199231
Gene: CAST HGNC NCBI
ERAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 189336
ClinVar RCV Id: RCV000169752
dbSNP Id: rs786205141
MyVariant Identifiers: chr5:g.96098017del (hg19) chr5:g.96762313del (hg38)
PubMed: PMID:3527073 PMID:25683118
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96762313del , CM000667.2:g.96762313del GRCh38
NC_000005.9:g.96098017del , CM000667.1:g.96098017del GRCh37
NC_000005.8:g.96123773del NCBI36
NG_027839.1:g.56832del
NG_029490.1:g.105277del
NG_027839.2:g.178671del
NG_029490.2:g.105277del

Transcript Alleles

HGVS Amino-acid change
ENST00000484552.6:c.793del (CAST) ENSP00000432878.2:p.Val265TrpfsTer?
ENST00000508608.6:c.1723del (CAST) ENSP00000422677.2:p.Val575TrpfsTer?
ENST00000510756.6:c.1501del (CAST) ENSP00000422176.2:p.Val501TrpfsTer?
ENST00000674587.1:c.1330del (CAST) ENSP00000501797.1:p.Val444TrpfsTer?
ENST00000674702.1:c.1615del (CAST) ENSP00000502345.1:p.Val539TrpfsTer?
ENST00000674984.1:c.1807del (CAST) ENSP00000501713.1:p.Val603TrpfsTer?
ENST00000675033.1:c.1501del (CAST) ENSP00000501659.1:p.Val501TrpfsTer?
ENST00000675179.1:c.1873del (CAST) MANE Select ENSP00000501872.1:p.Val625TrpfsTer?
ENST00000675185.1:c.254del (CAST)
ENST00000675266.1:c.1775del (CAST)
ENST00000675267.1:c.*1497del (CAST) ENSP00000502095.1:n.*1497del
ENST00000675275.1:c.590del (CAST)
ENST00000675479.1:c.1486del (CAST) ENSP00000502244.1:p.Val496TrpfsTer?
ENST00000675614.1:c.1543del (CAST) ENSP00000502136.1:p.Val515TrpfsTer?
ENST00000675663.1:c.1762del (CAST) ENSP00000502449.1:p.Val588TrpfsTer?
ENST00000675734.1:n.417del (CAST)
ENST00000675858.1:c.1417del (CAST) ENSP00000501780.1:p.Val473TrpfsTer?
ENST00000296754.7:c.*887del (ERAP1) ENSP00000296754.3:n.*887del
ENST00000309190.9:c.1558del (CAST) ENSP00000312523.5:p.Val520TrpfsTer?
ENST00000325674.11:c.793del (CAST) ENSP00000320319.8:p.Val265TrpfsTer?
ENST00000338252.7:c.1585del (CAST) ENSP00000343421.3:p.Val529TrpfsTer?
ENST00000341926.7:c.1624del (CAST) ENSP00000339914.3:p.Val542TrpfsTer?
ENST00000348386.7:n.1566del (CAST)
ENST00000395812.6:c.1750del (CAST) ENSP00000379157.2:p.Val584TrpfsTer?
ENST00000395813.5:c.1624del (CAST) ENSP00000379158.2:p.Val542TrpfsTer?
ENST00000437034.6:c.879del (CAST)
ENST00000484552.5:c.851del (CAST)
ENST00000504465.5:c.1408del (CAST) ENSP00000425670.1:p.Val470TrpfsTer?
ENST00000508579.5:c.769del (CAST) ENSP00000425787.1:p.Val257TrpfsTer?
ENST00000508608.5:c.1762del (CAST) ENSP00000422677.1:p.Val588TrpfsTer?
ENST00000508830.5:c.1873del (CAST) ENSP00000425721.1:p.Val625TrpfsTer?
ENST00000509903.5:c.1519del (CAST) ENSP00000426946.1:p.Val507TrpfsTer?
ENST00000510098.1:c.109del (CAST) ENSP00000427195.1:p.Val37TrpfsTer?
ENST00000510156.5:c.1624del (CAST) ENSP00000422325.1:p.Val542TrpfsTer?
ENST00000510500.5:c.896del (CAST)
ENST00000510756.5:c.1807del (CAST) ENSP00000422176.1:p.Val603TrpfsTer?
ENST00000511049.5:c.1582del (CAST) ENSP00000421130.1:p.Val528TrpfsTer?
ENST00000511782.5:c.1582del (CAST) ENSP00000423638.1:p.Val528TrpfsTer?
ENST00000515663.5:c.793del (CAST) ENSP00000422929.1:p.Val265TrpfsTer?
NM_001042440.3:c.1750del (CAST) NP_001035905.1:p.Val584TrpfsTer?
NM_001190442.1:c.1585del (CAST) NP_001177371.1:p.Val529TrpfsTer?
NM_001284212.1:c.1501del (CAST) NP_001271141.1:p.Val501TrpfsTer?
NM_001284213.1:c.1408del (CAST) NP_001271142.1:p.Val470TrpfsTer?
NM_016442.3:c.*887del (ERAP1) NP_057526.3:n.*887del
NM_173060.3:c.1558del (CAST) NP_775083.1:p.Val520TrpfsTer?
NR_104285.1:n.880del (CAST)
XM_006714696.2:c.1873del (CAST) XP_006714759.1:p.Val625TrpfsTer?
XM_006714697.2:c.1873del (CAST) XP_006714760.1:p.Val625TrpfsTer?
XM_006714698.2:c.1834del (CAST) XP_006714761.1:p.Val612TrpfsTer?
XM_006714699.2:c.1828del (CAST) XP_006714762.1:p.Val610TrpfsTer?
XM_006714700.2:c.1816del (CAST) XP_006714763.1:p.Val606TrpfsTer?
XM_006714701.2:c.1807del (CAST) XP_006714764.1:p.Val603TrpfsTer?
XM_006714702.2:c.1771del (CAST) XP_006714765.1:p.Val591TrpfsTer?
XM_006714703.2:c.1768del (CAST) XP_006714766.1:p.Val590TrpfsTer?
XM_006714704.2:c.1762del (CAST) XP_006714767.1:p.Val588TrpfsTer?
XM_006714705.2:c.1750del (CAST) XP_006714768.1:p.Val584TrpfsTer?
XM_006714706.2:c.1705del (CAST) XP_006714769.1:p.Val569TrpfsTer?
XM_006714707.2:c.1624del (CAST) XP_006714770.1:p.Val542TrpfsTer?
XM_006714708.2:c.1585del (CAST) XP_006714771.1:p.Val529TrpfsTer?
XM_006714709.2:c.1567del (CAST) XP_006714772.1:p.Val523TrpfsTer?
XM_006714710.2:c.1519del (CAST) XP_006714773.1:p.Val507TrpfsTer?
XM_006714711.2:c.1501del (CAST) XP_006714774.1:p.Val501TrpfsTer?
XM_006714712.2:c.1462del (CAST) XP_006714775.1:p.Val488TrpfsTer?
XM_006714713.2:c.793del (CAST) XP_006714776.1:p.Val265TrpfsTer?
XM_006714714.2:c.793del (CAST) XP_006714777.1:p.Val265TrpfsTer?
XM_006714715.2:c.769del (CAST) XP_006714778.1:p.Val257TrpfsTer?
XM_011543487.1:c.*887del (ERAP1) XP_011541789.1:n.*887del
XM_011543654.1:c.1792del (CAST) XP_011541956.1:p.Val598TrpfsTer?
XM_011543655.1:c.1789del (CAST) XP_011541957.1:p.Val597TrpfsTer?
XM_011543656.1:c.1726del (CAST) XP_011541958.1:p.Val576TrpfsTer?
XM_011543657.1:c.1681del (CAST) XP_011541959.1:p.Val561TrpfsTer?
XM_011543658.1:c.1477del (CAST) XP_011541960.1:p.Val493TrpfsTer?
NM_001042440.4:c.1750del (CAST) NP_001035905.1:p.Val584TrpfsTer?
NM_001042441.2:c.1816del (CAST) NP_001035906.1:p.Val606TrpfsTer?
NM_001042442.2:c.1807del (CAST) NP_001035907.1:p.Val603TrpfsTer?
NM_001042443.2:c.1624del (CAST) NP_001035908.1:p.Val542TrpfsTer?
NM_001042444.2:c.1501del (CAST) NP_001035909.1:p.Val501TrpfsTer?
NM_001042445.2:c.1519del (CAST) NP_001035910.1:p.Val507TrpfsTer?
NM_001042446.2:c.1462del (CAST) NP_001035911.1:p.Val488TrpfsTer?
NM_001284212.3:c.1501del (CAST) NP_001271141.1:p.Val501TrpfsTer?
NM_001284213.3:c.1408del (CAST) NP_001271142.1:p.Val470TrpfsTer?
NM_001330626.1:c.1777del (CAST) NP_001317555.1:p.Val593TrpfsTer?
NM_001330627.1:c.1750del (CAST) NP_001317556.1:p.Val584TrpfsTer?
NM_001330628.1:c.1705del (CAST) NP_001317557.1:p.Val569TrpfsTer?
NM_001330629.1:c.1789del (CAST) NP_001317558.1:p.Val597TrpfsTer?
NM_001330630.1:c.1462del (CAST) NP_001317559.1:p.Val488TrpfsTer?
NM_001330631.1:c.1585del (CAST) NP_001317560.1:p.Val529TrpfsTer?
NM_001330632.1:c.1558del (CAST) NP_001317561.1:p.Val520TrpfsTer?
NM_001330633.1:c.1567del (CAST) NP_001317562.1:p.Val523TrpfsTer?
NM_001330634.1:c.1528del (CAST) NP_001317563.1:p.Val510TrpfsTer?
NM_001349244.1:c.*887del (ERAP1) NP_001336173.1:n.*887del
NM_001750.6:c.1873del (CAST) NP_001741.4:p.Val625TrpfsTer?
NM_016442.4:c.*887del (ERAP1) NP_057526.3:n.*887del
NM_173060.4:c.1558del (CAST) NP_775083.1:p.Val520TrpfsTer?
XR_001742119.2:n.3872del (ERAP1)
NM_001042440.5:c.1750del (CAST) NP_001035905.1:p.Val584TrpfsTer?
NM_001042441.3:c.1816del (CAST) NP_001035906.1:p.Val606TrpfsTer?
NM_001042442.3:c.1807del (CAST) NP_001035907.1:p.Val603TrpfsTer?
NM_001330626.2:c.1777del (CAST) NP_001317555.1:p.Val593TrpfsTer?
NM_001330627.2:c.1750del (CAST) NP_001317556.1:p.Val584TrpfsTer?
NM_001330628.2:c.1705del (CAST) NP_001317557.1:p.Val569TrpfsTer?
NM_001330629.2:c.1789del (CAST) NP_001317558.1:p.Val597TrpfsTer?
NM_001375317.1:c.1762del (CAST) NP_001362246.1:p.Val588TrpfsTer?
NM_001750.7:c.1873del (CAST) MANE Select NP_001741.4:p.Val625TrpfsTer?
NR_104285.2:n.818del (CAST)
NM_001042443.3:c.1624del (CAST) NP_001035908.1:p.Val542TrpfsTer?
NM_001042444.3:c.1501del (CAST) NP_001035909.1:p.Val501TrpfsTer?
NM_001042445.3:c.1519del (CAST) NP_001035910.1:p.Val507TrpfsTer?
NM_001042446.3:c.1462del (CAST) NP_001035911.1:p.Val488TrpfsTer?
NM_001190442.2:c.1585del (CAST) NP_001177371.1:p.Val529TrpfsTer?
NM_001284212.4:c.1501del (CAST) NP_001271141.1:p.Val501TrpfsTer?
NM_001284213.4:c.1408del (CAST) NP_001271142.1:p.Val470TrpfsTer?
NM_001330630.2:c.1462del (CAST) NP_001317559.1:p.Val488TrpfsTer?
NM_001330631.2:c.1585del (CAST) NP_001317560.1:p.Val529TrpfsTer?
NM_001330632.2:c.1558del (CAST) NP_001317561.1:p.Val520TrpfsTer?
NM_001330633.2:c.1567del (CAST) NP_001317562.1:p.Val523TrpfsTer?
NM_001330634.2:c.1528del (CAST) NP_001317563.1:p.Val510TrpfsTer?
NM_001349244.2:c.*887del (ERAP1) NP_001336173.1:n.*887del
NM_016442.5:c.*887del (ERAP1) NP_057526.3:n.*887del
NM_173060.5:c.1558del (CAST) NP_775083.1:p.Val520TrpfsTer?
Search 100 bp 5'
Search 100 bp 3'