Canonical Allele Identifier: CA1565580711
Gene: ERAP1 HGNC NCBI

Linked Data

dbSNP Id: rs1775929620

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96785873_96785876del , CM000667.2:g.96785873_96785876del GRCh38
NC_000005.9:g.96121577_96121580del , CM000667.1:g.96121577_96121580del GRCh37
NC_000005.8:g.96147333_96147336del NCBI36
NG_027839.1:g.33270_33273del
NG_027839.2:g.155109_155112del

Transcript Alleles

HGVS Amino-acid Change
ENST00000443439.7:c.1856_1859del MANE Select ENSP00000406304.2:p.Ser619Ter
ENST00000296754.7:c.1856_1859del ENSP00000296754.3:p.Ser619Ter
ENST00000443439.6:c.1856_1859del ENSP00000406304.2:p.Ser619Ter
ENST00000507859.1:n.519_522del
ENST00000514604.5:n.280_283del
NM_001040458.1:c.1856_1859del NP_001035548.1:p.Ser619Ter
NM_001198541.1:c.1856_1859del NP_001185470.1:p.Ser619Ter
NM_016442.3:c.1856_1859del NP_057526.3:p.Ser619Ter
XM_005272015.3:c.1856_1859del XP_005272072.1:p.Ser619Ter
XM_005272016.3:c.1856_1859del XP_005272073.1:p.Ser619Ter
XM_011543480.1:c.1856_1859del XP_011541782.1:p.Ser619Ter
XM_011543481.1:c.1856_1859del XP_011541783.1:p.Ser619Ter
XM_011543482.1:c.1856_1859del XP_011541784.1:p.Ser619Ter
XM_011543483.1:c.1856_1859del XP_011541785.1:p.Ser619Ter
XM_011543484.1:c.1856_1859del XP_011541786.1:p.Ser619Ter
XM_011543485.1:c.1856_1859del XP_011541787.1:p.Ser619Ter
XM_011543486.1:c.1856_1859del XP_011541788.1:p.Ser619Ter
XM_011543487.1:c.1856_1859del XP_011541789.1:p.Ser619Ter
NM_001040458.2:c.1856_1859del NP_001035548.1:p.Ser619Ter
NM_001198541.2:c.1856_1859del NP_001185470.1:p.Ser619Ter
NM_001349244.1:c.1856_1859del NP_001336173.1:p.Ser619Ter
NM_016442.4:c.1856_1859del NP_057526.3:p.Ser619Ter
XM_005272015.5:c.1856_1859del XP_005272072.1:p.Ser619Ter
XM_005272016.4:c.1856_1859del XP_005272073.1:p.Ser619Ter
XM_011543480.2:c.1856_1859del XP_011541782.1:p.Ser619Ter
XM_011543481.2:c.1856_1859del XP_011541783.1:p.Ser619Ter
XM_011543484.2:c.1856_1859del XP_011541786.1:p.Ser619Ter
XM_011543485.2:c.1856_1859del XP_011541787.1:p.Ser619Ter
XM_011543486.3:c.1856_1859del XP_011541788.1:p.Ser619Ter
XM_017009581.1:c.1856_1859del XP_016865070.1:p.Ser619Ter
XM_017009583.2:c.761_764del XP_016865072.1:p.Ser254Ter
XM_024446113.1:c.1856_1859del XP_024301881.1:p.Ser619Ter
XR_001742119.2:n.1994_1997del
XR_001742445.1:n.3830_3833del
XR_001742446.1:n.1593_1596del
NM_001040458.3:c.1856_1859del MANE Select NP_001035548.1:p.Ser619Ter
NM_001198541.3:c.1856_1859del NP_001185470.1:p.Ser619Ter
NM_001349244.2:c.1856_1859del NP_001336173.1:p.Ser619Ter
NM_016442.5:c.1856_1859del NP_057526.3:p.Ser619Ter