Canonical Allele Identifier: CA1189920190
Gene: PTPN22 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113829835_113829837delinsATG , CM000663.2:g.113829835_113829837delinsATG GRCh38
NC_000001.10:g.114372457_114372459delinsATG , CM000663.1:g.114372457_114372459delinsATG GRCh37
NC_000001.9:g.114173980_114173982delinsATG NCBI36
NG_011432.1:g.46917_46919delinsCAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000359785.10:c.2134+112_2134+114delinsCAT (PTPN22) MANE Select ENSP00000352833.5:n.2134+112_2134+114delinsCAT
ENST00000359785.9:c.2134+112_2134+114delinsCAT (PTPN22) ENSP00000352833.5:n.2134+112_2134+114delinsCAT
ENST00000420377.6:c.2134+112_2134+114delinsCAT (PTPN22) ENSP00000388229.2:n.2134+112_2134+114delinsCAT
ENST00000460620.5:c.469-10183_469-10181delinsCAT (PTPN22) ENSP00000433141.1:n.469-10183_469-10181delinsCAT
ENST00000525799.1:c.1753+112_1753+114delinsCAT (PTPN22) ENSP00000432674.1:n.1753+112_1753+114delinsCAT
ENST00000528414.5:c.1969+112_1969+114delinsCAT (PTPN22) ENSP00000435176.1:n.1969+112_1969+114delinsCAT
ENST00000532224.5:c.*1412+112_*1412+114delinsCAT (PTPN22) ENSP00000431249.1:n.*1412+112_*1412+114delinsCAT
ENST00000538253.5:c.2062+112_2062+114delinsCAT (PTPN22) ENSP00000439372.2:n.2062+112_2062+114delinsCAT
NM_001193431.1:c.2050+112_2050+114delinsCAT (PTPN22) NP_001180360.1:n.2050+112_2050+114delinsCAT
NM_001193431.2:c.2050+112_2050+114delinsCAT (PTPN22) NP_001180360.1:n.2050+112_2050+114delinsCAT
NM_001308297.1:c.2062+112_2062+114delinsCAT (PTPN22) NP_001295226.1:n.2062+112_2062+114delinsCAT
NM_012411.4:c.1969+112_1969+114delinsCAT (PTPN22) NP_036543.4:n.1969+112_1969+114delinsCAT
NM_012411.5:c.1969+112_1969+114delinsCAT (PTPN22) NP_036543.4:n.1969+112_1969+114delinsCAT
NM_015967.5:c.2134+112_2134+114delinsCAT (PTPN22) NP_057051.3:n.2134+112_2134+114delinsCAT
NM_015967.6:c.2134+112_2134+114delinsCAT (PTPN22) NP_057051.3:n.2134+112_2134+114delinsCAT
NR_125965.1:n.414+14363_414+14365delinsATG (AP4B1-AS1)
XM_011541221.1:c.2056+112_2056+114delinsCAT (PTPN22) XP_011539523.1:n.2056+112_2056+114delinsCAT
XM_011541222.1:c.2134+112_2134+114delinsCAT (PTPN22) XP_011539524.1:n.2134+112_2134+114delinsCAT
XM_011541224.1:c.1690+112_1690+114delinsCAT (PTPN22) XP_011539526.1:n.1690+112_1690+114delinsCAT
XM_011541225.1:c.2062+112_2062+114delinsCAT (PTPN22) XP_011539527.1:n.2062+112_2062+114delinsCAT
XM_011541225.2:c.2062+112_2062+114delinsCAT (PTPN22) XP_011539527.1:n.2062+112_2062+114delinsCAT
XM_017001004.1:c.2134+112_2134+114delinsCAT (PTPN22) XP_016856493.1:n.2134+112_2134+114delinsCAT
XM_017001005.2:c.1789+112_1789+114delinsCAT (PTPN22) XP_016856494.1:n.1789+112_1789+114delinsCAT
NM_015967.7:c.2134+112_2134+114delinsCAT (PTPN22) NP_057051.3:n.2134+112_2134+114delinsCAT
NM_015967.8:c.2134+112_2134+114delinsCAT (PTPN22) MANE Select NP_057051.4:n.2134+112_2134+114delinsCAT