Canonical Allele Identifier: CA1189920187
Gene: PTPN22 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113829826_113829841delinsGCTTTTAAAATGTATT , CM000663.2:g.113829826_113829841delinsGCTTTTAAAATGTATT GRCh38
NC_000001.10:g.114372448_114372463delinsGCTTTTAAAATGTATT , CM000663.1:g.114372448_114372463delinsGCTTTTAAAATGTATT GRCh37
NC_000001.9:g.114173971_114173986delinsGCTTTTAAAATGTATT NCBI36
NG_011432.1:g.46913_46928delinsAATACATTTTAAAAGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000359785.10:c.2134+108_2135-119delinsAATACATTTTAAAAGC (PTPN22) MANE Select ENSP00000352833.5:n.2134+108_2135-119delinsAATACATTTTAAAAGC
ENST00000359785.9:c.2134+108_2135-119delinsAATACATTTTAAAAGC (PTPN22) ENSP00000352833.5:n.2134+108_2135-119delinsAATACATTTTAAAAGC
ENST00000420377.6:c.2134+108_2135-119delinsAATACATTTTAAAAGC (PTPN22) ENSP00000388229.2:n.2134+108_2135-119delinsAATACATTTTAAAAGC
ENST00000460620.5:c.469-10187_469-10172delinsAATACATTTTAAAAGC (PTPN22) ENSP00000433141.1:n.469-10187_469-10172delinsAATACATTTTAAAAGC...
ENST00000525799.1:c.1753+108_1754-119delinsAATACATTTTAAAAGC (PTPN22) ENSP00000432674.1:n.1753+108_1754-119delinsAATACATTTTAAAAGC
ENST00000528414.5:c.1969+108_1970-119delinsAATACATTTTAAAAGC (PTPN22) ENSP00000435176.1:n.1969+108_1970-119delinsAATACATTTTAAAAGC
ENST00000532224.5:c.*1412+108_*1413-119delinsAATACATTTTAAAAGC (PTPN22) ENSP00000431249.1:n.*1412+108_*1413-119delinsAATACATTTTAAAAGC...
ENST00000538253.5:c.2062+108_2063-119delinsAATACATTTTAAAAGC (PTPN22) ENSP00000439372.2:n.2062+108_2063-119delinsAATACATTTTAAAAGC
NM_001193431.1:c.2050+108_2051-119delinsAATACATTTTAAAAGC (PTPN22) NP_001180360.1:n.2050+108_2051-119delinsAATACATTTTAAAAGC
NM_001193431.2:c.2050+108_2051-119delinsAATACATTTTAAAAGC (PTPN22) NP_001180360.1:n.2050+108_2051-119delinsAATACATTTTAAAAGC
NM_001308297.1:c.2062+108_2063-119delinsAATACATTTTAAAAGC (PTPN22) NP_001295226.1:n.2062+108_2063-119delinsAATACATTTTAAAAGC
NM_012411.4:c.1969+108_1970-119delinsAATACATTTTAAAAGC (PTPN22) NP_036543.4:n.1969+108_1970-119delinsAATACATTTTAAAAGC
NM_012411.5:c.1969+108_1970-119delinsAATACATTTTAAAAGC (PTPN22) NP_036543.4:n.1969+108_1970-119delinsAATACATTTTAAAAGC
NM_015967.5:c.2134+108_2135-119delinsAATACATTTTAAAAGC (PTPN22) NP_057051.3:n.2134+108_2135-119delinsAATACATTTTAAAAGC
NM_015967.6:c.2134+108_2135-119delinsAATACATTTTAAAAGC (PTPN22) NP_057051.3:n.2134+108_2135-119delinsAATACATTTTAAAAGC
NR_125965.1:n.414+14354_414+14369delinsGCTTTTAAAATGTATT (AP4B1-AS1)
XM_011541221.1:c.2056+108_2057-119delinsAATACATTTTAAAAGC (PTPN22) XP_011539523.1:n.2056+108_2057-119delinsAATACATTTTAAAAGC
XM_011541222.1:c.2134+108_2135-119delinsAATACATTTTAAAAGC (PTPN22) XP_011539524.1:n.2134+108_2135-119delinsAATACATTTTAAAAGC
XM_011541224.1:c.1690+108_1691-119delinsAATACATTTTAAAAGC (PTPN22) XP_011539526.1:n.1690+108_1691-119delinsAATACATTTTAAAAGC
XM_011541225.1:c.2062+108_2063-119delinsAATACATTTTAAAAGC (PTPN22) XP_011539527.1:n.2062+108_2063-119delinsAATACATTTTAAAAGC
XM_011541225.2:c.2062+108_2063-119delinsAATACATTTTAAAAGC (PTPN22) XP_011539527.1:n.2062+108_2063-119delinsAATACATTTTAAAAGC
XM_017001004.1:c.2134+108_2135-119delinsAATACATTTTAAAAGC (PTPN22) XP_016856493.1:n.2134+108_2135-119delinsAATACATTTTAAAAGC
XM_017001005.2:c.1789+108_1790-119delinsAATACATTTTAAAAGC (PTPN22) XP_016856494.1:n.1789+108_1790-119delinsAATACATTTTAAAAGC
NM_015967.7:c.2134+108_2135-119delinsAATACATTTTAAAAGC (PTPN22) NP_057051.3:n.2134+108_2135-119delinsAATACATTTTAAAAGC
NM_015967.8:c.2134+108_2135-119delinsAATACATTTTAAAAGC (PTPN22) MANE Select NP_057051.4:n.2134+108_2135-119delinsAATACATTTTAAAAGC