Canonical Allele Identifier: CA2674682288

Gene: ERAP1 CAST

Linked Data

• gnomAD v4: 5-96775748-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96775749_96775750del , CM000667.2:g.96775749_96775750del	GRCh38
NC_000005.9:g.96111453_96111454del , CM000667.1:g.96111453_96111454del	GRCh37
NC_000005.8:g.96137209_96137210del	NCBI36
NG_027839.1:g.43395_43396del
NG_029490.1:g.118713_118714del
NG_027839.2:g.165234_165235del
NG_029490.2:g.118713_118714del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443439.7:c.*646_*647del (ERAP1) MANE Select	ENSP00000406304.2:n.*646_*647del
ENST00000296754.7:c.2818+654_2818+655del (ERAP1)	ENSP00000296754.3:n.2818+654_2818+655del
ENST00000443439.6:c.*646_*647del (ERAP1)	ENSP00000406304.2:n.*646_*647del
ENST00000510098.1:c.963-1119_963-1118del (CAST)	ENSP00000427195.1:n.963-1119_963-1118del
NM_001040458.1:c.*646_*647del (ERAP1)	NP_001035548.1:n.*646_*647del
NM_001198541.1:c.*646_*647del (ERAP1)	NP_001185470.1:n.*646_*647del
NM_016442.3:c.2818+654_2818+655del (ERAP1)	NP_057526.3:n.2818+654_2818+655del
XM_005272015.3:c.2818+654_2818+655del (ERAP1)	XP_005272072.1:n.2818+654_2818+655del
XM_005272016.3:c.2818+654_2818+655del (ERAP1)	XP_005272073.1:n.2818+654_2818+655del
XM_011543480.1:c.2818+654_2818+655del (ERAP1)	XP_011541782.1:n.2818+654_2818+655del
XM_011543481.1:c.2818+654_2818+655del (ERAP1)	XP_011541783.1:n.2818+654_2818+655del
XM_011543482.1:c.2818+654_2818+655del (ERAP1)	XP_011541784.1:n.2818+654_2818+655del
XM_011543483.1:c.2818+654_2818+655del (ERAP1)	XP_011541785.1:n.2818+654_2818+655del
XM_011543484.1:c.2818+654_2818+655del (ERAP1)	XP_011541786.1:n.2818+654_2818+655del
XM_011543485.1:c.2818+654_2818+655del (ERAP1)	XP_011541787.1:n.2818+654_2818+655del
XM_011543486.1:c.*646_*647del (ERAP1)	XP_011541788.1:n.*646_*647del
XM_011543487.1:c.2818+654_2818+655del (ERAP1)	XP_011541789.1:n.2818+654_2818+655del
NM_001040458.2:c.*646_*647del (ERAP1)	NP_001035548.1:n.*646_*647del
NM_001198541.2:c.*646_*647del (ERAP1)	NP_001185470.1:n.*646_*647del
NM_001349244.1:c.2818+654_2818+655del (ERAP1)	NP_001336173.1:n.2818+654_2818+655del
NM_016442.4:c.2818+654_2818+655del (ERAP1)	NP_057526.3:n.2818+654_2818+655del
XM_005272015.5:c.2818+654_2818+655del (ERAP1)	XP_005272072.1:n.2818+654_2818+655del
XM_005272016.4:c.2818+654_2818+655del (ERAP1)	XP_005272073.1:n.2818+654_2818+655del
XM_011543480.2:c.2818+654_2818+655del (ERAP1)	XP_011541782.1:n.2818+654_2818+655del
XM_011543481.2:c.2818+654_2818+655del (ERAP1)	XP_011541783.1:n.2818+654_2818+655del
XM_011543484.2:c.2818+654_2818+655del (ERAP1)	XP_011541786.1:n.2818+654_2818+655del
XM_011543485.2:c.2818+654_2818+655del (ERAP1)	XP_011541787.1:n.2818+654_2818+655del
XM_011543486.3:c.*646_*647del (ERAP1)	XP_011541788.1:n.*646_*647del
XM_017009581.1:c.2818+654_2818+655del (ERAP1)	XP_016865070.1:n.2818+654_2818+655del
XM_017009583.2:c.1723+654_1723+655del (ERAP1)	XP_016865072.1:n.1723+654_1723+655del
XM_024446113.1:c.2818+654_2818+655del (ERAP1)	XP_024301881.1:n.2818+654_2818+655del
XR_001742119.2:n.2956+654_2956+655del (ERAP1)
NM_001040458.3:c.*646_*647del (ERAP1) MANE Select	NP_001035548.1:n.*646_*647del
NM_001198541.3:c.*646_*647del (ERAP1)	NP_001185470.1:n.*646_*647del
NM_001349244.2:c.2818+654_2818+655del (ERAP1)	NP_001336173.1:n.2818+654_2818+655del
NM_016442.5:c.2818+654_2818+655del (ERAP1)	NP_057526.3:n.2818+654_2818+655del