Canonical Allele Identifier: CA2522810030
Gene: PTPN22 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113829930_113829931insTTTCTTTAAGATTTTTTGTAAAATATTTATC , CM000663.2:g.113829930_113829931insTTTCTTTAAGATTTTTTGTAAAATATTTATC GRCh38
NC_000001.10:g.114372552_114372553insTTTCTTTAAGATTTTTTGTAAAATATTTATC , CM000663.1:g.114372552_114372553insTTTCTTTAAGATTTTTTGTAAAATATTTATC GRCh37
NC_000001.9:g.114174075_114174076insTTTCTTTAAGATTTTTTGTAAAATATTTATC NCBI36
NG_011432.1:g.46823_46824insGATAAATATTTTACAAAAAATCTTAAAGAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000359785.10:c.2134+18_2134+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) MANE Select ENSP00000352833.5:n.2134+18_2134+19insGATAAATATTTTACAAAAAATCT...
ENST00000359785.9:c.2134+18_2134+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) ENSP00000352833.5:n.2134+18_2134+19insGATAAATATTTTACAAAAAATCT...
ENST00000420377.6:c.2134+18_2134+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) ENSP00000388229.2:n.2134+18_2134+19insGATAAATATTTTACAAAAAATCT...
ENST00000460620.5:c.469-10277_469-10276insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) ENSP00000433141.1:n.469-10277_469-10276insGATAAATATTTTACAAAAA...
ENST00000525799.1:c.1753+18_1753+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) ENSP00000432674.1:n.1753+18_1753+19insGATAAATATTTTACAAAAAATCT...
ENST00000528414.5:c.1969+18_1969+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) ENSP00000435176.1:n.1969+18_1969+19insGATAAATATTTTACAAAAAATCT...
ENST00000532224.5:c.*1412+18_*1412+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) ENSP00000431249.1:n.*1412+18_*1412+19insGATAAATATTTTACAAAAAAT...
ENST00000538253.5:c.2062+18_2062+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) ENSP00000439372.2:n.2062+18_2062+19insGATAAATATTTTACAAAAAATCT...
NM_001193431.1:c.2050+18_2050+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) NP_001180360.1:n.2050+18_2050+19insGATAAATATTTTACAAAAAATCTTAA...
NM_001193431.2:c.2050+18_2050+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) NP_001180360.1:n.2050+18_2050+19insGATAAATATTTTACAAAAAATCTTAA...
NM_001308297.1:c.2062+18_2062+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) NP_001295226.1:n.2062+18_2062+19insGATAAATATTTTACAAAAAATCTTAA...
NM_012411.4:c.1969+18_1969+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) NP_036543.4:n.1969+18_1969+19insGATAAATATTTTACAAAAAATCTTAAAGA...
NM_012411.5:c.1969+18_1969+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) NP_036543.4:n.1969+18_1969+19insGATAAATATTTTACAAAAAATCTTAAAGA...
NM_015967.5:c.2134+18_2134+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) NP_057051.3:n.2134+18_2134+19insGATAAATATTTTACAAAAAATCTTAAAGA...
NM_015967.6:c.2134+18_2134+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) NP_057051.3:n.2134+18_2134+19insGATAAATATTTTACAAAAAATCTTAAAGA...
NR_125965.1:n.414+14458_414+14459insTTTCTTTAAGATTTTTTGTAAAATATTTATC (AP4B1-AS1)
XM_011541221.1:c.2056+18_2056+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) XP_011539523.1:n.2056+18_2056+19insGATAAATATTTTACAAAAAATCTTAA...
XM_011541222.1:c.2134+18_2134+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) XP_011539524.1:n.2134+18_2134+19insGATAAATATTTTACAAAAAATCTTAA...
XM_011541224.1:c.1690+18_1690+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) XP_011539526.1:n.1690+18_1690+19insGATAAATATTTTACAAAAAATCTTAA...
XM_011541225.1:c.2062+18_2062+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) XP_011539527.1:n.2062+18_2062+19insGATAAATATTTTACAAAAAATCTTAA...
XM_011541225.2:c.2062+18_2062+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) XP_011539527.1:n.2062+18_2062+19insGATAAATATTTTACAAAAAATCTTAA...
XM_017001004.1:c.2134+18_2134+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) XP_016856493.1:n.2134+18_2134+19insGATAAATATTTTACAAAAAATCTTAA...
XM_017001005.2:c.1789+18_1789+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) XP_016856494.1:n.1789+18_1789+19insGATAAATATTTTACAAAAAATCTTAA...
NM_015967.7:c.2134+18_2134+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) NP_057051.3:n.2134+18_2134+19insGATAAATATTTTACAAAAAATCTTAAAGA...
NM_015967.8:c.2134+18_2134+19insGATAAATATTTTACAAAAAATCTTAAAGAAA (PTPN22) MANE Select NP_057051.4:n.2134+18_2134+19insGATAAATATTTTACAAAAAATCTTAAAGA...