Canonical Allele Identifier: CA1005951233
Gene: PTPN22 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113847180_113847181insGAAACAAGATATAAAGAGAACCAAATGGAAATTTTAGAACTTAAAAATACAGTAACCCATCTATTTTGCTTCAGTTACTGTATTTT , CM000663.2:g.113847180_113847181insGAAACAAGATATAAAGAGAACCAAATGGAAATTTTAGAACTTAAAAATACAGTAACCCATCTATTTTGCTTCAGTTACTGTATTTT GRCh38
NC_000001.10:g.114389802_114389803insGAAACAAGATATAAAGAGAACCAAATGGAAATTTTAGAACTTAAAAATACAGTAACCCATCTATTTTGCTTCAGTTACTGTATTTT , CM000663.1:g.114389802_114389803insGAAACAAGATATAAAGAGAACCAAATGGAAATTTTAGAACTTAAAAATACAGTAACCCATCTATTTTGCTTCAGTTACTGTATTTT GRCh37
NC_000001.9:g.114191325_114191326insGAAACAAGATATAAAGAGAACCAAATGGAAATTTTAGAACTTAAAAATACAGTAACCCATCTATTTTGCTTCAGTTACTGTATTTT NCBI36
NG_011432.1:g.29606_29607insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000359785.10:c.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) MANE Select ENSP00000352833.5:n.915+1392_915+1393insACTGTATTTTTAAGTTCTAAA...
ENST00000359785.9:c.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) ENSP00000352833.5:n.915+1392_915+1393insACTGTATTTTTAAGTTCTAAA...
ENST00000420377.6:c.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) ENSP00000388229.2:n.915+1392_915+1393insACTGTATTTTTAAGTTCTAAA...
ENST00000460620.5:c.468+9234_468+9235insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) ENSP00000433141.1:n.468+9234_468+9235insACTGTATTTTTAAGTTCTAAA...
ENST00000484147.5:n.956+1392_956+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22)
ENST00000525799.1:c.534+1392_534+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) ENSP00000432674.1:n.534+1392_534+1393insACTGTATTTTTAAGTTCTAAA...
ENST00000528414.5:c.750+7323_750+7324insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) ENSP00000435176.1:n.750+7323_750+7324insACTGTATTTTTAAGTTCTAAA...
ENST00000532224.5:c.*193+1392_*193+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) ENSP00000431249.1:n.*193+1392_*193+1393insACTGTATTTTTAAGTTCTA...
ENST00000538253.5:c.843+1392_843+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) ENSP00000439372.2:n.843+1392_843+1393insACTGTATTTTTAAGTTCTAAA...
NM_001193431.1:c.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) NP_001180360.1:n.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATT...
NM_001193431.2:c.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) NP_001180360.1:n.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATT...
NM_001308297.1:c.843+1392_843+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) NP_001295226.1:n.843+1392_843+1393insACTGTATTTTTAAGTTCTAAAATT...
NM_012411.4:c.750+7323_750+7324insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) NP_036543.4:n.750+7323_750+7324insACTGTATTTTTAAGTTCTAAAATTTCC...
NM_012411.5:c.750+7323_750+7324insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) NP_036543.4:n.750+7323_750+7324insACTGTATTTTTAAGTTCTAAAATTTCC...
NM_015967.5:c.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) NP_057051.3:n.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATTTCC...
NM_015967.6:c.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) NP_057051.3:n.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATTTCC...
NR_125965.1:n.414+31708_414+31709insGAAACAAGATATAAAGAGAACCAAATGGAAATTTTAGAACTTAAAAATACAGTAACCCATCTATTTTGCTTCAGTTACTGTATTTT (AP4B1-AS1)
XM_011541221.1:c.837+1392_837+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) XP_011539523.1:n.837+1392_837+1393insACTGTATTTTTAAGTTCTAAAATT...
XM_011541222.1:c.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) XP_011539524.1:n.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATT...
XM_011541223.1:c.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) XP_011539525.1:n.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATT...
XM_011541224.1:c.471+1392_471+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) XP_011539526.1:n.471+1392_471+1393insACTGTATTTTTAAGTTCTAAAATT...
XM_011541225.1:c.843+1392_843+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) XP_011539527.1:n.843+1392_843+1393insACTGTATTTTTAAGTTCTAAAATT...
XM_011541223.2:c.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) XP_011539525.1:n.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATT...
XM_011541225.2:c.843+1392_843+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) XP_011539527.1:n.843+1392_843+1393insACTGTATTTTTAAGTTCTAAAATT...
XM_017001004.1:c.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) XP_016856493.1:n.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATT...
XM_017001005.2:c.570+1392_570+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) XP_016856494.1:n.570+1392_570+1393insACTGTATTTTTAAGTTCTAAAATT...
XM_017001006.1:c.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) XP_016856495.1:n.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATT...
NM_015967.7:c.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) NP_057051.3:n.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATTTCC...
NM_015967.8:c.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATTTCCATTTGGTTCTCTTTATATCTTGTTTCAAAATACAGTAACTGAAGCAAAATAGATGGGTT (PTPN22) MANE Select NP_057051.4:n.915+1392_915+1393insACTGTATTTTTAAGTTCTAAAATTTCC...