Canonical Allele Identifier: CA917534205

Linked Data

dbSNP Id: rs1554107193

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96775265_96775267dup , CM000667.2:g.96775265_96775267dup GRCh38
NC_000005.9:g.96110969_96110971dup , CM000667.1:g.96110969_96110971dup GRCh37
NC_000005.8:g.96136725_96136727dup NCBI36
NG_027839.1:g.43879_43881dup
NG_029490.1:g.118229_118231dup
NG_027839.2:g.165718_165720dup
NG_029490.2:g.118229_118231dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000443439.7:c.*1130_*1132dup (ERAP1) MANE Select ENSP00000406304.2:n.*1130_*1132dup
ENST00000296754.7:c.2818+1138_2818+1140dup (ERAP1) ENSP00000296754.3:n.2818+1138_2818+1140dup
ENST00000443439.6:c.*1130_*1132dup (ERAP1) ENSP00000406304.2:n.*1130_*1132dup
ENST00000510098.1:c.963-1603_963-1601dup (CAST) ENSP00000427195.1:n.963-1603_963-1601dup
NM_001040458.1:c.*1130_*1132dup (ERAP1) NP_001035548.1:n.*1130_*1132dup
NM_001198541.1:c.*1130_*1132dup (ERAP1) NP_001185470.1:n.*1130_*1132dup
NM_016442.3:c.2818+1138_2818+1140dup (ERAP1) NP_057526.3:n.2818+1138_2818+1140dup
XM_005272015.3:c.2818+1138_2818+1140dup (ERAP1) XP_005272072.1:n.2818+1138_2818+1140dup
XM_005272016.3:c.2818+1138_2818+1140dup (ERAP1) XP_005272073.1:n.2818+1138_2818+1140dup
XM_011543480.1:c.2818+1138_2818+1140dup (ERAP1) XP_011541782.1:n.2818+1138_2818+1140dup
XM_011543481.1:c.2818+1138_2818+1140dup (ERAP1) XP_011541783.1:n.2818+1138_2818+1140dup
XM_011543482.1:c.2818+1138_2818+1140dup (ERAP1) XP_011541784.1:n.2818+1138_2818+1140dup
XM_011543483.1:c.2818+1138_2818+1140dup (ERAP1) XP_011541785.1:n.2818+1138_2818+1140dup
XM_011543484.1:c.2818+1138_2818+1140dup (ERAP1) XP_011541786.1:n.2818+1138_2818+1140dup
XM_011543485.1:c.2818+1138_2818+1140dup (ERAP1) XP_011541787.1:n.2818+1138_2818+1140dup
XM_011543486.1:c.*1130_*1132dup (ERAP1) XP_011541788.1:n.*1130_*1132dup
XM_011543487.1:c.2818+1138_2818+1140dup (ERAP1) XP_011541789.1:n.2818+1138_2818+1140dup
NM_001040458.2:c.*1130_*1132dup (ERAP1) NP_001035548.1:n.*1130_*1132dup
NM_001198541.2:c.*1130_*1132dup (ERAP1) NP_001185470.1:n.*1130_*1132dup
NM_001349244.1:c.2818+1138_2818+1140dup (ERAP1) NP_001336173.1:n.2818+1138_2818+1140dup
NM_016442.4:c.2818+1138_2818+1140dup (ERAP1) NP_057526.3:n.2818+1138_2818+1140dup
XM_005272015.5:c.2818+1138_2818+1140dup (ERAP1) XP_005272072.1:n.2818+1138_2818+1140dup
XM_005272016.4:c.2818+1138_2818+1140dup (ERAP1) XP_005272073.1:n.2818+1138_2818+1140dup
XM_011543480.2:c.2818+1138_2818+1140dup (ERAP1) XP_011541782.1:n.2818+1138_2818+1140dup
XM_011543481.2:c.2818+1138_2818+1140dup (ERAP1) XP_011541783.1:n.2818+1138_2818+1140dup
XM_011543484.2:c.2818+1138_2818+1140dup (ERAP1) XP_011541786.1:n.2818+1138_2818+1140dup
XM_011543485.2:c.2818+1138_2818+1140dup (ERAP1) XP_011541787.1:n.2818+1138_2818+1140dup
XM_011543486.3:c.*1130_*1132dup (ERAP1) XP_011541788.1:n.*1130_*1132dup
XM_017009581.1:c.2818+1138_2818+1140dup (ERAP1) XP_016865070.1:n.2818+1138_2818+1140dup
XM_017009583.2:c.1723+1138_1723+1140dup (ERAP1) XP_016865072.1:n.1723+1138_1723+1140dup
XM_024446113.1:c.2818+1138_2818+1140dup (ERAP1) XP_024301881.1:n.2818+1138_2818+1140dup
XR_001742119.2:n.2956+1138_2956+1140dup (ERAP1)
NM_001040458.3:c.*1130_*1132dup (ERAP1) MANE Select NP_001035548.1:n.*1130_*1132dup
NM_001198541.3:c.*1130_*1132dup (ERAP1) NP_001185470.1:n.*1130_*1132dup
NM_001349244.2:c.2818+1138_2818+1140dup (ERAP1) NP_001336173.1:n.2818+1138_2818+1140dup
NM_016442.5:c.2818+1138_2818+1140dup (ERAP1) NP_057526.3:n.2818+1138_2818+1140dup