Canonical Allele Identifier: CA2674681993

Gene: ERAP1 CAST

Linked Data

• gnomAD v4: 5-96775572-A-ATTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96775575_96775578dup , CM000667.2:g.96775575_96775578dup	GRCh38
NC_000005.9:g.96111279_96111282dup , CM000667.1:g.96111279_96111282dup	GRCh37
NC_000005.8:g.96137035_96137038dup	NCBI36
NG_027839.1:g.43569_43572dup
NG_029490.1:g.118539_118542dup
NG_027839.2:g.165408_165411dup
NG_029490.2:g.118539_118542dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000443439.7:c.*820_*823dup (ERAP1) MANE Select	ENSP00000406304.2:n.*820_*823dup
ENST00000296754.7:c.2818+828_2818+831dup (ERAP1)	ENSP00000296754.3:n.2818+828_2818+831dup
ENST00000443439.6:c.*820_*823dup (ERAP1)	ENSP00000406304.2:n.*820_*823dup
ENST00000510098.1:c.963-1293_963-1290dup (CAST)	ENSP00000427195.1:n.963-1293_963-1290dup
NM_001040458.1:c.*820_*823dup (ERAP1)	NP_001035548.1:n.*820_*823dup
NM_001198541.1:c.*820_*823dup (ERAP1)	NP_001185470.1:n.*820_*823dup
NM_016442.3:c.2818+828_2818+831dup (ERAP1)	NP_057526.3:n.2818+828_2818+831dup
XM_005272015.3:c.2818+828_2818+831dup (ERAP1)	XP_005272072.1:n.2818+828_2818+831dup
XM_005272016.3:c.2818+828_2818+831dup (ERAP1)	XP_005272073.1:n.2818+828_2818+831dup
XM_011543480.1:c.2818+828_2818+831dup (ERAP1)	XP_011541782.1:n.2818+828_2818+831dup
XM_011543481.1:c.2818+828_2818+831dup (ERAP1)	XP_011541783.1:n.2818+828_2818+831dup
XM_011543482.1:c.2818+828_2818+831dup (ERAP1)	XP_011541784.1:n.2818+828_2818+831dup
XM_011543483.1:c.2818+828_2818+831dup (ERAP1)	XP_011541785.1:n.2818+828_2818+831dup
XM_011543484.1:c.2818+828_2818+831dup (ERAP1)	XP_011541786.1:n.2818+828_2818+831dup
XM_011543485.1:c.2818+828_2818+831dup (ERAP1)	XP_011541787.1:n.2818+828_2818+831dup
XM_011543486.1:c.*820_*823dup (ERAP1)	XP_011541788.1:n.*820_*823dup
XM_011543487.1:c.2818+828_2818+831dup (ERAP1)	XP_011541789.1:n.2818+828_2818+831dup
NM_001040458.2:c.*820_*823dup (ERAP1)	NP_001035548.1:n.*820_*823dup
NM_001198541.2:c.*820_*823dup (ERAP1)	NP_001185470.1:n.*820_*823dup
NM_001349244.1:c.2818+828_2818+831dup (ERAP1)	NP_001336173.1:n.2818+828_2818+831dup
NM_016442.4:c.2818+828_2818+831dup (ERAP1)	NP_057526.3:n.2818+828_2818+831dup
XM_005272015.5:c.2818+828_2818+831dup (ERAP1)	XP_005272072.1:n.2818+828_2818+831dup
XM_005272016.4:c.2818+828_2818+831dup (ERAP1)	XP_005272073.1:n.2818+828_2818+831dup
XM_011543480.2:c.2818+828_2818+831dup (ERAP1)	XP_011541782.1:n.2818+828_2818+831dup
XM_011543481.2:c.2818+828_2818+831dup (ERAP1)	XP_011541783.1:n.2818+828_2818+831dup
XM_011543484.2:c.2818+828_2818+831dup (ERAP1)	XP_011541786.1:n.2818+828_2818+831dup
XM_011543485.2:c.2818+828_2818+831dup (ERAP1)	XP_011541787.1:n.2818+828_2818+831dup
XM_011543486.3:c.*820_*823dup (ERAP1)	XP_011541788.1:n.*820_*823dup
XM_017009581.1:c.2818+828_2818+831dup (ERAP1)	XP_016865070.1:n.2818+828_2818+831dup
XM_017009583.2:c.1723+828_1723+831dup (ERAP1)	XP_016865072.1:n.1723+828_1723+831dup
XM_024446113.1:c.2818+828_2818+831dup (ERAP1)	XP_024301881.1:n.2818+828_2818+831dup
XR_001742119.2:n.2956+828_2956+831dup (ERAP1)
NM_001040458.3:c.*820_*823dup (ERAP1) MANE Select	NP_001035548.1:n.*820_*823dup
NM_001198541.3:c.*820_*823dup (ERAP1)	NP_001185470.1:n.*820_*823dup
NM_001349244.2:c.2818+828_2818+831dup (ERAP1)	NP_001336173.1:n.2818+828_2818+831dup
NM_016442.5:c.2818+828_2818+831dup (ERAP1)	NP_057526.3:n.2818+828_2818+831dup