Canonical Allele Identifier: CA1079049193

Gene: ERAP1

Linked Data

• gnomAD v3: 5-96785666-T-TAAAAGGAAAACACCTTTCAACTTCTTCTAACAACCCAAGATAGAAGAACTTA
• gnomAD v4: 5-96785666-T-TAAAAGGAAAACACCTTTCAACTTCTTCTAACAACCCAAGATAGAAGAACTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96785669_96785670insAGGAAAACACCTTTCAACTTCTTCTAACAACCCAAGATAGAAGAACTTAAAA , CM000667.2:g.96785669_96785670insAGGAAAACACCTTTCAACTTCTTCTAACAACCCAAGATAGAAGAACTTAAAA	GRCh38
NC_000005.9:g.96121373_96121374insAGGAAAACACCTTTCAACTTCTTCTAACAACCCAAGATAGAAGAACTTAAAA , CM000667.1:g.96121373_96121374insAGGAAAACACCTTTCAACTTCTTCTAACAACCCAAGATAGAAGAACTTAAAA	GRCh37
NC_000005.8:g.96147129_96147130insAGGAAAACACCTTTCAACTTCTTCTAACAACCCAAGATAGAAGAACTTAAAA	NCBI36
NG_027839.1:g.33478_33479insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT
NG_027839.2:g.155317_155318insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443439.7:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT MANE Select	ENSP00000406304.2:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTT...
ENST00000296754.7:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	ENSP00000296754.3:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTT...
ENST00000443439.6:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	ENSP00000406304.2:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTT...
ENST00000507859.1:n.727_728insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT
ENST00000514604.5:n.367+121_367+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT
NM_001040458.1:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	NP_001035548.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
NM_001198541.1:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	NP_001185470.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
NM_016442.3:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	NP_057526.3:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGA...
XM_005272015.3:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_005272072.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
XM_005272016.3:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_005272073.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
XM_011543480.1:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_011541782.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
XM_011543481.1:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_011541783.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
XM_011543482.1:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_011541784.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
XM_011543483.1:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_011541785.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
XM_011543484.1:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_011541786.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
XM_011543485.1:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_011541787.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
XM_011543486.1:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_011541788.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
XM_011543487.1:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_011541789.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
XR_427744.2:n.437_438insAGGAAAACACCTTTCAACTTCTTCTAACAACCCAAGATAGAAGAACTTAAAA
XR_948592.1:n.753_754insAGGAAAACACCTTTCAACTTCTTCTAACAACCCAAGATAGAAGAACTTAAAA
XR_948593.1:n.1061_1062insAGGAAAACACCTTTCAACTTCTTCTAACAACCCAAGATAGAAGAACTTAAAA
XR_948594.1:n.735_736insAGGAAAACACCTTTCAACTTCTTCTAACAACCCAAGATAGAAGAACTTAAAA
XR_948595.1:n.745_746insAGGAAAACACCTTTCAACTTCTTCTAACAACCCAAGATAGAAGAACTTAAAA
NM_001040458.2:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	NP_001035548.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
NM_001198541.2:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	NP_001185470.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
NM_001349244.1:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	NP_001336173.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
NM_016442.4:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	NP_057526.3:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGA...
XM_005272015.5:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_005272072.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
XM_005272016.4:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_005272073.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
XM_011543480.2:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_011541782.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
XM_011543481.2:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_011541783.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
XM_011543484.2:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_011541786.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
XM_011543485.2:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_011541787.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
XM_011543486.3:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_011541788.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
XM_017009581.1:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_016865070.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
XM_017009583.2:c.848+121_848+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_016865072.1:n.848+121_848+122insTAAGTTCTTCTATCTTGGGTTGTTAG...
XM_024446113.1:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	XP_024301881.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
XR_001742119.2:n.2081+121_2081+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT
XR_001742445.1:n.3626_3627insAGGAAAACACCTTTCAACTTCTTCTAACAACCCAAGATAGAAGAACTTAAAA
XR_001742446.1:n.1389_1390insAGGAAAACACCTTTCAACTTCTTCTAACAACCCAAGATAGAAGAACTTAAAA
NM_001040458.3:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT MANE Select	NP_001035548.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
NM_001198541.3:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	NP_001185470.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
NM_001349244.2:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	NP_001336173.1:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTT...
NM_016442.5:c.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGAAGAAGTTGAAAGGTGTTTTCCTTTT	NP_057526.3:n.1943+121_1943+122insTAAGTTCTTCTATCTTGGGTTGTTAGA...