Canonical Allele Identifier: CA2588340037

Gene: ERAP1

Linked Data

• gnomAD v4: 5-96803622-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96803622_96803623insG , CM000667.2:g.96803622_96803623insG	GRCh38
NC_000005.9:g.96139325_96139326insG , CM000667.1:g.96139325_96139326insG	GRCh37
NC_000005.8:g.96165081_96165082insG	NCBI36
NG_027839.1:g.15523_15524insC
NG_027839.2:g.137361_137362insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443439.7:c.304_305insC MANE Select	ENSP00000406304.2:p.Ile102ThrfsTer3
ENST00000296754.7:c.304_305insC	ENSP00000296754.3:p.Ile102ThrfsTer3
ENST00000443439.6:c.304_305insC	ENSP00000406304.2:p.Ile102ThrfsTer3
ENST00000503921.5:c.-281_-280insC	ENSP00000427025.1:n.-281_-280insC
ENST00000507154.1:c.304_305insC	ENSP00000421697.1:p.Ile102ThrfsTer3
ENST00000508227.5:c.-261_-260insC	ENSP00000422631.1:n.-261_-260insC
NM_001040458.1:c.304_305insC	NP_001035548.1:p.Ile102ThrfsTer3
NM_001198541.1:c.304_305insC	NP_001185470.1:p.Ile102ThrfsTer3
NM_016442.3:c.304_305insC	NP_057526.3:p.Ile102ThrfsTer3
XM_005272015.3:c.304_305insC	XP_005272072.1:p.Ile102ThrfsTer3
XM_005272016.3:c.304_305insC	XP_005272073.1:p.Ile102ThrfsTer3
XM_011543480.1:c.304_305insC	XP_011541782.1:p.Ile102ThrfsTer3
XM_011543481.1:c.304_305insC	XP_011541783.1:p.Ile102ThrfsTer3
XM_011543482.1:c.304_305insC	XP_011541784.1:p.Ile102ThrfsTer3
XM_011543483.1:c.304_305insC	XP_011541785.1:p.Ile102ThrfsTer3
XM_011543484.1:c.304_305insC	XP_011541786.1:p.Ile102ThrfsTer3
XM_011543485.1:c.304_305insC	XP_011541787.1:p.Ile102ThrfsTer3
XM_011543486.1:c.304_305insC	XP_011541788.1:p.Ile102ThrfsTer3
XM_011543487.1:c.304_305insC	XP_011541789.1:p.Ile102ThrfsTer3
NM_001040458.2:c.304_305insC	NP_001035548.1:p.Ile102ThrfsTer3
NM_001198541.2:c.304_305insC	NP_001185470.1:p.Ile102ThrfsTer3
NM_001349244.1:c.304_305insC	NP_001336173.1:p.Ile102ThrfsTer3
NM_016442.4:c.304_305insC	NP_057526.3:p.Ile102ThrfsTer3
XM_005272015.5:c.304_305insC	XP_005272072.1:p.Ile102ThrfsTer3
XM_005272016.4:c.304_305insC	XP_005272073.1:p.Ile102ThrfsTer3
XM_011543480.2:c.304_305insC	XP_011541782.1:p.Ile102ThrfsTer3
XM_011543481.2:c.304_305insC	XP_011541783.1:p.Ile102ThrfsTer3
XM_011543484.2:c.304_305insC	XP_011541786.1:p.Ile102ThrfsTer3
XM_011543485.2:c.304_305insC	XP_011541787.1:p.Ile102ThrfsTer3
XM_011543486.3:c.304_305insC	XP_011541788.1:p.Ile102ThrfsTer3
XM_017009581.1:c.304_305insC	XP_016865070.1:p.Ile102ThrfsTer3
XM_017009583.2:c.-739_-738insC	XP_016865072.1:n.-739_-738insC
XM_024446113.1:c.304_305insC	XP_024301881.1:p.Ile102ThrfsTer3
XR_001742119.2:n.597_598insC
NM_001040458.3:c.304_305insC MANE Select	NP_001035548.1:p.Ile102ThrfsTer3
NM_001198541.3:c.304_305insC	NP_001185470.1:p.Ile102ThrfsTer3
NM_001349244.2:c.304_305insC	NP_001336173.1:p.Ile102ThrfsTer3
NM_016442.5:c.304_305insC	NP_057526.3:p.Ile102ThrfsTer3