Canonical Allele Identifier: CA561304226

Gene: ERAP1 CAST

Linked Data

• dbSNP Id: rs1292886907
• gnomAD v2: 5-96111271-A-AAAAG
• gnomAD v3: 5-96775567-A-AAAAG
• gnomAD v4: 5-96775567-A-AAAAG
• MyVariant Identifiers: chr5:g.96111271_96111272insAAAG (hg19) ; chr5:g.96775567_96775568insAAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96775569_96775572dup , CM000667.2:g.96775569_96775572dup	GRCh38
NC_000005.9:g.96111273_96111276dup , CM000667.1:g.96111273_96111276dup	GRCh37
NC_000005.8:g.96137029_96137032dup	NCBI36
NG_027839.1:g.43574_43577dup
NG_029490.1:g.118533_118536dup
NG_027839.2:g.165413_165416dup
NG_029490.2:g.118533_118536dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000443439.7:c.*825_*828dup (ERAP1) MANE Select	ENSP00000406304.2:n.*825_*828dup
ENST00000296754.7:c.2818+833_2818+836dup (ERAP1)	ENSP00000296754.3:n.2818+833_2818+836dup
ENST00000443439.6:c.*825_*828dup (ERAP1)	ENSP00000406304.2:n.*825_*828dup
ENST00000510098.1:c.963-1299_963-1296dup (CAST)	ENSP00000427195.1:n.963-1299_963-1296dup
NM_001040458.1:c.*825_*828dup (ERAP1)	NP_001035548.1:n.*825_*828dup
NM_001198541.1:c.*825_*828dup (ERAP1)	NP_001185470.1:n.*825_*828dup
NM_016442.3:c.2818+833_2818+836dup (ERAP1)	NP_057526.3:n.2818+833_2818+836dup
XM_005272015.3:c.2818+833_2818+836dup (ERAP1)	XP_005272072.1:n.2818+833_2818+836dup
XM_005272016.3:c.2818+833_2818+836dup (ERAP1)	XP_005272073.1:n.2818+833_2818+836dup
XM_011543480.1:c.2818+833_2818+836dup (ERAP1)	XP_011541782.1:n.2818+833_2818+836dup
XM_011543481.1:c.2818+833_2818+836dup (ERAP1)	XP_011541783.1:n.2818+833_2818+836dup
XM_011543482.1:c.2818+833_2818+836dup (ERAP1)	XP_011541784.1:n.2818+833_2818+836dup
XM_011543483.1:c.2818+833_2818+836dup (ERAP1)	XP_011541785.1:n.2818+833_2818+836dup
XM_011543484.1:c.2818+833_2818+836dup (ERAP1)	XP_011541786.1:n.2818+833_2818+836dup
XM_011543485.1:c.2818+833_2818+836dup (ERAP1)	XP_011541787.1:n.2818+833_2818+836dup
XM_011543486.1:c.*825_*828dup (ERAP1)	XP_011541788.1:n.*825_*828dup
XM_011543487.1:c.2818+833_2818+836dup (ERAP1)	XP_011541789.1:n.2818+833_2818+836dup
NM_001040458.2:c.*825_*828dup (ERAP1)	NP_001035548.1:n.*825_*828dup
NM_001198541.2:c.*825_*828dup (ERAP1)	NP_001185470.1:n.*825_*828dup
NM_001349244.1:c.2818+833_2818+836dup (ERAP1)	NP_001336173.1:n.2818+833_2818+836dup
NM_016442.4:c.2818+833_2818+836dup (ERAP1)	NP_057526.3:n.2818+833_2818+836dup
XM_005272015.5:c.2818+833_2818+836dup (ERAP1)	XP_005272072.1:n.2818+833_2818+836dup
XM_005272016.4:c.2818+833_2818+836dup (ERAP1)	XP_005272073.1:n.2818+833_2818+836dup
XM_011543480.2:c.2818+833_2818+836dup (ERAP1)	XP_011541782.1:n.2818+833_2818+836dup
XM_011543481.2:c.2818+833_2818+836dup (ERAP1)	XP_011541783.1:n.2818+833_2818+836dup
XM_011543484.2:c.2818+833_2818+836dup (ERAP1)	XP_011541786.1:n.2818+833_2818+836dup
XM_011543485.2:c.2818+833_2818+836dup (ERAP1)	XP_011541787.1:n.2818+833_2818+836dup
XM_011543486.3:c.*825_*828dup (ERAP1)	XP_011541788.1:n.*825_*828dup
XM_017009581.1:c.2818+833_2818+836dup (ERAP1)	XP_016865070.1:n.2818+833_2818+836dup
XM_017009583.2:c.1723+833_1723+836dup (ERAP1)	XP_016865072.1:n.1723+833_1723+836dup
XM_024446113.1:c.2818+833_2818+836dup (ERAP1)	XP_024301881.1:n.2818+833_2818+836dup
XR_001742119.2:n.2956+833_2956+836dup (ERAP1)
NM_001040458.3:c.*825_*828dup (ERAP1) MANE Select	NP_001035548.1:n.*825_*828dup
NM_001198541.3:c.*825_*828dup (ERAP1)	NP_001185470.1:n.*825_*828dup
NM_001349244.2:c.2818+833_2818+836dup (ERAP1)	NP_001336173.1:n.2818+833_2818+836dup
NM_016442.5:c.2818+833_2818+836dup (ERAP1)	NP_057526.3:n.2818+833_2818+836dup