Canonical Allele Identifier: CA2511988675
Gene: PTPN22 HGNC NCBI
AP4B1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.113847013_113847014insCTCTGTTTTTTTTTTTTTTTTTTTTTTT , CM000663.2:g.113847013_113847014insCTCTGTTTTTTTTTTTTTTTTTTTTTTT GRCh38
NC_000001.10:g.114389635_114389636insCTCTGTTTTTTTTTTTTTTTTTTTTTTT , CM000663.1:g.114389635_114389636insCTCTGTTTTTTTTTTTTTTTTTTTTTTT GRCh37
NC_000001.9:g.114191158_114191159insCTCTGTTTTTTTTTTTTTTTTTTTTTTT NCBI36
NG_011432.1:g.29740_29741insAAAAAAAAAAAAAAAAAAAAAAACAGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000359785.10:c.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) MANE Select ENSP00000352833.5:n.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAA...
ENST00000359785.9:c.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) ENSP00000352833.5:n.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAA...
ENST00000420377.6:c.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) ENSP00000388229.2:n.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAA...
ENST00000460620.5:c.468+9368_468+9369insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) ENSP00000433141.1:n.468+9368_468+9369insAAAAAAAAAAAAAAAAAAAAA...
ENST00000484147.5:n.956+1526_956+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22)
ENST00000525799.1:c.534+1526_534+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) ENSP00000432674.1:n.534+1526_534+1527insAAAAAAAAAAAAAAAAAAAAA...
ENST00000528414.5:c.750+7457_750+7458insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) ENSP00000435176.1:n.750+7457_750+7458insAAAAAAAAAAAAAAAAAAAAA...
ENST00000532224.5:c.*193+1526_*193+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) ENSP00000431249.1:n.*193+1526_*193+1527insAAAAAAAAAAAAAAAAAAA...
ENST00000538253.5:c.843+1526_843+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) ENSP00000439372.2:n.843+1526_843+1527insAAAAAAAAAAAAAAAAAAAAA...
NM_001193431.1:c.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) NP_001180360.1:n.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAAC...
NM_001193431.2:c.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) NP_001180360.1:n.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAAC...
NM_001308297.1:c.843+1526_843+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) NP_001295226.1:n.843+1526_843+1527insAAAAAAAAAAAAAAAAAAAAAAAC...
NM_012411.4:c.750+7457_750+7458insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) NP_036543.4:n.750+7457_750+7458insAAAAAAAAAAAAAAAAAAAAAAACAGA...
NM_012411.5:c.750+7457_750+7458insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) NP_036543.4:n.750+7457_750+7458insAAAAAAAAAAAAAAAAAAAAAAACAGA...
NM_015967.5:c.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) NP_057051.3:n.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAACAGA...
NM_015967.6:c.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) NP_057051.3:n.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAACAGA...
NR_125965.1:n.414+31541_414+31542insCTCTGTTTTTTTTTTTTTTTTTTTTTTT (AP4B1-AS1)
XM_011541221.1:c.837+1526_837+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) XP_011539523.1:n.837+1526_837+1527insAAAAAAAAAAAAAAAAAAAAAAAC...
XM_011541222.1:c.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) XP_011539524.1:n.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAAC...
XM_011541223.1:c.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) XP_011539525.1:n.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAAC...
XM_011541224.1:c.471+1526_471+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) XP_011539526.1:n.471+1526_471+1527insAAAAAAAAAAAAAAAAAAAAAAAC...
XM_011541225.1:c.843+1526_843+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) XP_011539527.1:n.843+1526_843+1527insAAAAAAAAAAAAAAAAAAAAAAAC...
XM_011541223.2:c.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) XP_011539525.1:n.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAAC...
XM_011541225.2:c.843+1526_843+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) XP_011539527.1:n.843+1526_843+1527insAAAAAAAAAAAAAAAAAAAAAAAC...
XM_017001004.1:c.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) XP_016856493.1:n.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAAC...
XM_017001005.2:c.570+1526_570+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) XP_016856494.1:n.570+1526_570+1527insAAAAAAAAAAAAAAAAAAAAAAAC...
XM_017001006.1:c.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) XP_016856495.1:n.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAAC...
NM_015967.7:c.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) NP_057051.3:n.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAACAGA...
NM_015967.8:c.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAACAGAG (PTPN22) MANE Select NP_057051.4:n.915+1526_915+1527insAAAAAAAAAAAAAAAAAAAAAAACAGA...