Canonical Allele Identifier: CA525390367

Gene: PTPN22 AP4B1-AS1

Linked Data

• dbSNP Id: rs1282142309
• gnomAD v2: 1-114363598-AATT-A
• gnomAD v3: 1-113820976-AATT-A
• gnomAD v4: 1-113820976-AATT-A
• MyVariant Identifiers: chr1:g.114363599_114363601del (hg19) ; chr1:g.113820977_113820979del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113820982_113820984del , CM000663.2:g.113820982_113820984del	GRCh38
NC_000001.10:g.114363604_114363606del , CM000663.1:g.114363604_114363606del	GRCh37
NC_000001.9:g.114165127_114165129del	NCBI36
NG_011432.1:g.55775_55777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359785.10:c.2282-1325_2282-1323del (PTPN22) MANE Select	ENSP00000352833.5:n.2282-1325_2282-1323del
ENST00000359785.9:c.2282-1325_2282-1323del (PTPN22)	ENSP00000352833.5:n.2282-1325_2282-1323del
ENST00000420377.6:c.2282-1325_2282-1323del (PTPN22)	ENSP00000388229.2:n.2282-1325_2282-1323del
ENST00000460620.5:c.469-1325_469-1323del (PTPN22)	ENSP00000433141.1:n.469-1325_469-1323del
ENST00000525799.1:c.1901-1325_1901-1323del (PTPN22)	ENSP00000432674.1:n.1901-1325_1901-1323del
ENST00000528414.5:c.2117-1325_2117-1323del (PTPN22)	ENSP00000435176.1:n.2117-1325_2117-1323del
ENST00000532224.5:c.*1560-1325_*1560-1323del (PTPN22)	ENSP00000431249.1:n.*1560-1325_*1560-1323del
ENST00000538253.5:c.2210-1325_2210-1323del (PTPN22)	ENSP00000439372.2:n.2210-1325_2210-1323del
NM_001193431.1:c.2198-1325_2198-1323del (PTPN22)	NP_001180360.1:n.2198-1325_2198-1323del
NM_001193431.2:c.2198-1325_2198-1323del (PTPN22)	NP_001180360.1:n.2198-1325_2198-1323del
NM_001308297.1:c.2210-1325_2210-1323del (PTPN22)	NP_001295226.1:n.2210-1325_2210-1323del
NM_012411.4:c.2117-1325_2117-1323del (PTPN22)	NP_036543.4:n.2117-1325_2117-1323del
NM_012411.5:c.2117-1325_2117-1323del (PTPN22)	NP_036543.4:n.2117-1325_2117-1323del
NM_015967.5:c.2282-1325_2282-1323del (PTPN22)	NP_057051.3:n.2282-1325_2282-1323del
NM_015967.6:c.2282-1325_2282-1323del (PTPN22)	NP_057051.3:n.2282-1325_2282-1323del
NR_125965.1:n.414+5510_414+5512del (AP4B1-AS1)
XM_011541221.1:c.2204-1325_2204-1323del (PTPN22)	XP_011539523.1:n.2204-1325_2204-1323del
XM_011541222.1:c.2251-1325_2251-1323del (PTPN22)	XP_011539524.1:n.2251-1325_2251-1323del
XM_011541224.1:c.1838-1325_1838-1323del (PTPN22)	XP_011539526.1:n.1838-1325_1838-1323del
XM_011541225.1:c.2179-1325_2179-1323del (PTPN22)	XP_011539527.1:n.2179-1325_2179-1323del
XM_011541225.2:c.2179-1325_2179-1323del (PTPN22)	XP_011539527.1:n.2179-1325_2179-1323del
XM_017001005.2:c.1937-1325_1937-1323del (PTPN22)	XP_016856494.1:n.1937-1325_1937-1323del
NM_015967.7:c.2282-1325_2282-1323del (PTPN22)	NP_057051.3:n.2282-1325_2282-1323del
NM_015967.8:c.2282-1325_2282-1323del (PTPN22) MANE Select	NP_057051.4:n.2282-1325_2282-1323del