Canonical Allele Identifier: CA2647207452

Gene: PTPN22 AP4B1-AS1

Linked Data

• gnomAD v4: 1-113834946-A-AGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113834946_113834947insGCG , CM000663.2:g.113834946_113834947insGCG	GRCh38
NC_000001.10:g.114377568_114377569insGCG , CM000663.1:g.114377568_114377569insGCG	GRCh37
NC_000001.9:g.114179091_114179092insGCG	NCBI36
NG_011432.1:g.41807_41808insCGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000359785.10:c.1857_1858insCGC (PTPN22) MANE Select	ENSP00000352833.5:p.Val619_Trp620insArg
ENST00000359785.9:c.1857_1858insCGC (PTPN22)	ENSP00000352833.5:p.Val619_Trp620insArg
ENST00000420377.6:c.1857_1858insCGC (PTPN22)	ENSP00000388229.2:p.Val619_Trp620insArg
ENST00000460620.5:c.469-15293_469-15292insCGC (PTPN22)	ENSP00000433141.1:n.469-15293_469-15292in...
ENST00000484147.5:n.1898_1899insCGC (PTPN22)
ENST00000525799.1:c.1476_1477insCGC (PTPN22)	ENSP00000432674.1:p.Val492_Trp493insArg
ENST00000528414.5:c.1692_1693insCGC (PTPN22)	ENSP00000435176.1:p.Val564_Trp565insArg
ENST00000532224.5:c.*1135_*1136insCGC (PTPN22)	ENSP00000431249.1:n.*1135_*1136insCGC
ENST00000538253.5:c.1785_1786insCGC (PTPN22)	ENSP00000439372.2:p.Val595_Trp596insArg
NM_001193431.1:c.1857_1858insCGC (PTPN22)	NP_001180360.1:p.Val619_Arg620insArg
NM_001193431.2:c.1857_1858insCGC (PTPN22)	NP_001180360.1:p.Val619_Arg620insArg
NM_001308297.1:c.1785_1786insCGC (PTPN22)	NP_001295226.1:p.Val595_Arg596insArg
NM_012411.4:c.1692_1693insCGC (PTPN22)	NP_036543.4:p.Val564_Arg565insArg
NM_012411.5:c.1692_1693insCGC (PTPN22)	NP_036543.4:p.Val564_Arg565insArg
NM_015967.5:c.1857_1858insCGC (PTPN22)	NP_057051.3:p.Val619_Arg620insArg
NM_015967.6:c.1857_1858insCGC (PTPN22)	NP_057051.3:p.Val619_Arg620insArg
NR_125965.1:n.414+19474_414+19475insGCG (AP4B1-AS1)
XM_011541221.1:c.1779_1780insCGC (PTPN22)	XP_011539523.1:p.Val593_Trp594insArg
XM_011541222.1:c.1857_1858insCGC (PTPN22)	XP_011539524.1:p.Val619_Trp620insArg
XM_011541223.1:c.1857_1858insCGC (PTPN22)	XP_011539525.1:p.Val619_Trp620insArg
XM_011541224.1:c.1413_1414insCGC (PTPN22)	XP_011539526.1:p.Val471_Trp472insArg
XM_011541225.1:c.1785_1786insCGC (PTPN22)	XP_011539527.1:p.Val595_Trp596insArg
XM_011541223.2:c.1857_1858insCGC (PTPN22)	XP_011539525.1:p.Val619_Trp620insArg
XM_011541225.2:c.1785_1786insCGC (PTPN22)	XP_011539527.1:p.Val595_Trp596insArg
XM_017001004.1:c.1857_1858insCGC (PTPN22)	XP_016856493.1:p.Val619_Trp620insArg
XM_017001005.2:c.1512_1513insCGC (PTPN22)	XP_016856494.1:p.Val504_Trp505insArg
NM_015967.7:c.1857_1858insCGC (PTPN22)	NP_057051.3:p.Val619_Arg620insArg
NM_015967.8:c.1857_1858insCGC (PTPN22) MANE Select	NP_057051.4:p.Val619_Trp620insArg