Canonical Allele Identifier: CA815911170

Gene: CAST ERAP1

Linked Data

• dbSNP Id: rs1194527709
• gnomAD v3: 5-96762108-GAAGA-G
• gnomAD v4: 5-96762108-GAAGA-G
• MyVariant Identifiers: chr5:g.96097813_96097816del (hg19) ; chr5:g.96762109_96762112del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96762114_96762117del , CM000667.2:g.96762114_96762117del	GRCh38
NC_000005.9:g.96097818_96097821del , CM000667.1:g.96097818_96097821del	GRCh37
NC_000005.8:g.96123574_96123577del	NCBI36
NG_027839.1:g.57033_57036del
NG_029490.1:g.105078_105081del
NG_027839.2:g.178872_178875del
NG_029490.2:g.105078_105081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484552.6:c.754-160_754-157del (CAST)	ENSP00000432878.2:n.754-160_754-157del
ENST00000508608.6:c.1684-160_1684-157del (CAST)	ENSP00000422677.2:n.1684-160_1684-157del
ENST00000510756.6:c.1462-160_1462-157del (CAST)	ENSP00000422176.2:n.1462-160_1462-157del
ENST00000674587.1:c.1291-160_1291-157del (CAST)	ENSP00000501797.1:n.1291-160_1291-157del
ENST00000674702.1:c.1576-160_1576-157del (CAST)	ENSP00000502345.1:n.1576-160_1576-157del
ENST00000674984.1:c.1768-160_1768-157del (CAST)	ENSP00000501713.1:n.1768-160_1768-157del
ENST00000675033.1:c.1462-160_1462-157del (CAST)	ENSP00000501659.1:n.1462-160_1462-157del
ENST00000675179.1:c.1834-160_1834-157del (CAST) MANE Select	ENSP00000501872.1:n.1834-160_1834-157del
ENST00000675185.1:c.215-160_215-157del (CAST)
ENST00000675266.1:c.1736-160_1736-157del (CAST)
ENST00000675267.1:c.*1458-160_*1458-157del (CAST)	ENSP00000502095.1:n.*1458-160_*1458-157del
ENST00000675275.1:c.551-160_551-157del (CAST)
ENST00000675479.1:c.1447-160_1447-157del (CAST)	ENSP00000502244.1:n.1447-160_1447-157del
ENST00000675614.1:c.1504-160_1504-157del (CAST)	ENSP00000502136.1:n.1504-160_1504-157del
ENST00000675663.1:c.1723-160_1723-157del (CAST)	ENSP00000502449.1:n.1723-160_1723-157del
ENST00000675734.1:n.378-160_378-157del (CAST)
ENST00000675858.1:c.1378-160_1378-157del (CAST)	ENSP00000501780.1:n.1378-160_1378-157del
ENST00000296754.7:c.*1088_*1091del (ERAP1)	ENSP00000296754.3:n.*1088_*1091del
ENST00000309190.9:c.1519-160_1519-157del (CAST)	ENSP00000312523.5:n.1519-160_1519-157del
ENST00000325674.11:c.754-160_754-157del (CAST)	ENSP00000320319.8:n.754-160_754-157del
ENST00000338252.7:c.1546-160_1546-157del (CAST)	ENSP00000343421.3:n.1546-160_1546-157del
ENST00000341926.7:c.1585-160_1585-157del (CAST)	ENSP00000339914.3:n.1585-160_1585-157del
ENST00000348386.7:n.1527-160_1527-157del (CAST)
ENST00000395812.6:c.1711-160_1711-157del (CAST)	ENSP00000379157.2:n.1711-160_1711-157del
ENST00000395813.5:c.1585-160_1585-157del (CAST)	ENSP00000379158.2:n.1585-160_1585-157del
ENST00000437034.6:c.840-160_840-157del (CAST)
ENST00000484552.5:c.812-160_812-157del (CAST)
ENST00000504465.5:c.1369-160_1369-157del (CAST)	ENSP00000425670.1:n.1369-160_1369-157del
ENST00000508579.5:c.730-160_730-157del (CAST)	ENSP00000425787.1:n.730-160_730-157del
ENST00000508608.5:c.1723-160_1723-157del (CAST)	ENSP00000422677.1:n.1723-160_1723-157del
ENST00000508830.5:c.1834-160_1834-157del (CAST)	ENSP00000425721.1:n.1834-160_1834-157del
ENST00000509903.5:c.1480-160_1480-157del (CAST)	ENSP00000426946.1:n.1480-160_1480-157del
ENST00000510098.1:c.70-160_70-157del (CAST)	ENSP00000427195.1:n.70-160_70-157del
ENST00000510156.5:c.1585-160_1585-157del (CAST)	ENSP00000422325.1:n.1585-160_1585-157del
ENST00000510500.5:c.857-160_857-157del (CAST)
ENST00000510756.5:c.1768-160_1768-157del (CAST)	ENSP00000422176.1:n.1768-160_1768-157del
ENST00000511049.5:c.1543-160_1543-157del (CAST)	ENSP00000421130.1:n.1543-160_1543-157del
ENST00000511782.5:c.1543-160_1543-157del (CAST)	ENSP00000423638.1:n.1543-160_1543-157del
ENST00000515663.5:c.754-160_754-157del (CAST)	ENSP00000422929.1:n.754-160_754-157del
NM_001042440.3:c.1711-160_1711-157del (CAST)	NP_001035905.1:n.1711-160_1711-157del
NM_001190442.1:c.1546-160_1546-157del (CAST)	NP_001177371.1:n.1546-160_1546-157del
NM_001284212.1:c.1462-160_1462-157del (CAST)	NP_001271141.1:n.1462-160_1462-157del
NM_001284213.1:c.1369-160_1369-157del (CAST)	NP_001271142.1:n.1369-160_1369-157del
NM_016442.3:c.*1088_*1091del (ERAP1)	NP_057526.3:n.*1088_*1091del
NM_173060.3:c.1519-160_1519-157del (CAST)	NP_775083.1:n.1519-160_1519-157del
NR_104285.1:n.841-160_841-157del (CAST)
XM_006714696.2:c.1834-160_1834-157del (CAST)	XP_006714759.1:n.1834-160_1834-157del
XM_006714697.2:c.1834-160_1834-157del (CAST)	XP_006714760.1:n.1834-160_1834-157del
XM_006714698.2:c.1795-160_1795-157del (CAST)	XP_006714761.1:n.1795-160_1795-157del
XM_006714699.2:c.1789-160_1789-157del (CAST)	XP_006714762.1:n.1789-160_1789-157del
XM_006714700.2:c.1777-160_1777-157del (CAST)	XP_006714763.1:n.1777-160_1777-157del
XM_006714701.2:c.1768-160_1768-157del (CAST)	XP_006714764.1:n.1768-160_1768-157del
XM_006714702.2:c.1732-160_1732-157del (CAST)	XP_006714765.1:n.1732-160_1732-157del
XM_006714703.2:c.1729-160_1729-157del (CAST)	XP_006714766.1:n.1729-160_1729-157del
XM_006714704.2:c.1723-160_1723-157del (CAST)	XP_006714767.1:n.1723-160_1723-157del
XM_006714705.2:c.1711-160_1711-157del (CAST)	XP_006714768.1:n.1711-160_1711-157del
XM_006714706.2:c.1666-160_1666-157del (CAST)	XP_006714769.1:n.1666-160_1666-157del
XM_006714707.2:c.1585-160_1585-157del (CAST)	XP_006714770.1:n.1585-160_1585-157del
XM_006714708.2:c.1546-160_1546-157del (CAST)	XP_006714771.1:n.1546-160_1546-157del
XM_006714709.2:c.1528-160_1528-157del (CAST)	XP_006714772.1:n.1528-160_1528-157del
XM_006714710.2:c.1480-160_1480-157del (CAST)	XP_006714773.1:n.1480-160_1480-157del
XM_006714711.2:c.1462-160_1462-157del (CAST)	XP_006714774.1:n.1462-160_1462-157del
XM_006714712.2:c.1423-160_1423-157del (CAST)	XP_006714775.1:n.1423-160_1423-157del
XM_006714713.2:c.754-160_754-157del (CAST)	XP_006714776.1:n.754-160_754-157del
XM_006714714.2:c.754-160_754-157del (CAST)	XP_006714777.1:n.754-160_754-157del
XM_006714715.2:c.730-160_730-157del (CAST)	XP_006714778.1:n.730-160_730-157del
XM_011543654.1:c.1753-160_1753-157del (CAST)	XP_011541956.1:n.1753-160_1753-157del
XM_011543655.1:c.1750-160_1750-157del (CAST)	XP_011541957.1:n.1750-160_1750-157del
XM_011543656.1:c.1687-160_1687-157del (CAST)	XP_011541958.1:n.1687-160_1687-157del
XM_011543657.1:c.1642-160_1642-157del (CAST)	XP_011541959.1:n.1642-160_1642-157del
XM_011543658.1:c.1438-160_1438-157del (CAST)	XP_011541960.1:n.1438-160_1438-157del
NM_001042440.4:c.1711-160_1711-157del (CAST)	NP_001035905.1:n.1711-160_1711-157del
NM_001042441.2:c.1777-160_1777-157del (CAST)	NP_001035906.1:n.1777-160_1777-157del
NM_001042442.2:c.1768-160_1768-157del (CAST)	NP_001035907.1:n.1768-160_1768-157del
NM_001042443.2:c.1585-160_1585-157del (CAST)	NP_001035908.1:n.1585-160_1585-157del
NM_001042444.2:c.1462-160_1462-157del (CAST)	NP_001035909.1:n.1462-160_1462-157del
NM_001042445.2:c.1480-160_1480-157del (CAST)	NP_001035910.1:n.1480-160_1480-157del
NM_001042446.2:c.1423-160_1423-157del (CAST)	NP_001035911.1:n.1423-160_1423-157del
NM_001284212.3:c.1462-160_1462-157del (CAST)	NP_001271141.1:n.1462-160_1462-157del
NM_001284213.3:c.1369-160_1369-157del (CAST)	NP_001271142.1:n.1369-160_1369-157del
NM_001330626.1:c.1738-160_1738-157del (CAST)	NP_001317555.1:n.1738-160_1738-157del
NM_001330627.1:c.1711-160_1711-157del (CAST)	NP_001317556.1:n.1711-160_1711-157del
NM_001330628.1:c.1666-160_1666-157del (CAST)	NP_001317557.1:n.1666-160_1666-157del
NM_001330629.1:c.1750-160_1750-157del (CAST)	NP_001317558.1:n.1750-160_1750-157del
NM_001330630.1:c.1423-160_1423-157del (CAST)	NP_001317559.1:n.1423-160_1423-157del
NM_001330631.1:c.1546-160_1546-157del (CAST)	NP_001317560.1:n.1546-160_1546-157del
NM_001330632.1:c.1519-160_1519-157del (CAST)	NP_001317561.1:n.1519-160_1519-157del
NM_001330633.1:c.1528-160_1528-157del (CAST)	NP_001317562.1:n.1528-160_1528-157del
NM_001330634.1:c.1489-160_1489-157del (CAST)	NP_001317563.1:n.1489-160_1489-157del
NM_001349244.1:c.*1088_*1091del (ERAP1)	NP_001336173.1:n.*1088_*1091del
NM_001750.6:c.1834-160_1834-157del (CAST)	NP_001741.4:n.1834-160_1834-157del
NM_016442.4:c.*1088_*1091del (ERAP1)	NP_057526.3:n.*1088_*1091del
NM_173060.4:c.1519-160_1519-157del (CAST)	NP_775083.1:n.1519-160_1519-157del
XR_001742119.2:n.4073_4076del (ERAP1)
NM_001042440.5:c.1711-160_1711-157del (CAST)	NP_001035905.1:n.1711-160_1711-157del
NM_001042441.3:c.1777-160_1777-157del (CAST)	NP_001035906.1:n.1777-160_1777-157del
NM_001042442.3:c.1768-160_1768-157del (CAST)	NP_001035907.1:n.1768-160_1768-157del
NM_001330626.2:c.1738-160_1738-157del (CAST)	NP_001317555.1:n.1738-160_1738-157del
NM_001330627.2:c.1711-160_1711-157del (CAST)	NP_001317556.1:n.1711-160_1711-157del
NM_001330628.2:c.1666-160_1666-157del (CAST)	NP_001317557.1:n.1666-160_1666-157del
NM_001330629.2:c.1750-160_1750-157del (CAST)	NP_001317558.1:n.1750-160_1750-157del
NM_001375317.1:c.1723-160_1723-157del (CAST)	NP_001362246.1:n.1723-160_1723-157del
NM_001750.7:c.1834-160_1834-157del (CAST) MANE Select	NP_001741.4:n.1834-160_1834-157del
NR_104285.2:n.779-160_779-157del (CAST)
NM_001042443.3:c.1585-160_1585-157del (CAST)	NP_001035908.1:n.1585-160_1585-157del
NM_001042444.3:c.1462-160_1462-157del (CAST)	NP_001035909.1:n.1462-160_1462-157del
NM_001042445.3:c.1480-160_1480-157del (CAST)	NP_001035910.1:n.1480-160_1480-157del
NM_001042446.3:c.1423-160_1423-157del (CAST)	NP_001035911.1:n.1423-160_1423-157del
NM_001190442.2:c.1546-160_1546-157del (CAST)	NP_001177371.1:n.1546-160_1546-157del
NM_001284212.4:c.1462-160_1462-157del (CAST)	NP_001271141.1:n.1462-160_1462-157del
NM_001284213.4:c.1369-160_1369-157del (CAST)	NP_001271142.1:n.1369-160_1369-157del
NM_001330630.2:c.1423-160_1423-157del (CAST)	NP_001317559.1:n.1423-160_1423-157del
NM_001330631.2:c.1546-160_1546-157del (CAST)	NP_001317560.1:n.1546-160_1546-157del
NM_001330632.2:c.1519-160_1519-157del (CAST)	NP_001317561.1:n.1519-160_1519-157del
NM_001330633.2:c.1528-160_1528-157del (CAST)	NP_001317562.1:n.1528-160_1528-157del
NM_001330634.2:c.1489-160_1489-157del (CAST)	NP_001317563.1:n.1489-160_1489-157del
NM_001349244.2:c.*1088_*1091del (ERAP1)	NP_001336173.1:n.*1088_*1091del
NM_016442.5:c.*1088_*1091del (ERAP1)	NP_057526.3:n.*1088_*1091del
NM_173060.5:c.1519-160_1519-157del (CAST)	NP_775083.1:n.1519-160_1519-157del