Canonical Allele Identifier: CA1005944567

Gene: PTPN22 AP4B1-AS1

Linked Data

• dbSNP Id: rs1661531964
• gnomAD v3: 1-113820821-A-ATT
• gnomAD v4: 1-113820821-A-ATT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113820823_113820824dup , CM000663.2:g.113820823_113820824dup	GRCh38
NC_000001.10:g.114363445_114363446dup , CM000663.1:g.114363445_114363446dup	GRCh37
NC_000001.9:g.114164968_114164969dup	NCBI36
NG_011432.1:g.55931_55932dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000359785.10:c.2282-1169_2282-1168dup (PTPN22) MANE Select	ENSP00000352833.5:n.2282-1169_2282-1168du...
ENST00000359785.9:c.2282-1169_2282-1168dup (PTPN22)	ENSP00000352833.5:n.2282-1169_2282-1168du...
ENST00000420377.6:c.2282-1169_2282-1168dup (PTPN22)	ENSP00000388229.2:n.2282-1169_2282-1168du...
ENST00000460620.5:c.469-1169_469-1168dup (PTPN22)	ENSP00000433141.1:n.469-1169_469-1168dup
ENST00000525799.1:c.1901-1169_1901-1168dup (PTPN22)	ENSP00000432674.1:n.1901-1169_1901-1168du...
ENST00000528414.5:c.2117-1169_2117-1168dup (PTPN22)	ENSP00000435176.1:n.2117-1169_2117-1168du...
ENST00000532224.5:c.*1560-1169_*1560-1168dup (PTPN22)	ENSP00000431249.1:n.*1560-1169_*1560-1168...
ENST00000538253.5:c.2210-1169_2210-1168dup (PTPN22)	ENSP00000439372.2:n.2210-1169_2210-1168du...
NM_001193431.1:c.2198-1169_2198-1168dup (PTPN22)	NP_001180360.1:n.2198-1169_2198-1168dup
NM_001193431.2:c.2198-1169_2198-1168dup (PTPN22)	NP_001180360.1:n.2198-1169_2198-1168dup
NM_001308297.1:c.2210-1169_2210-1168dup (PTPN22)	NP_001295226.1:n.2210-1169_2210-1168dup
NM_012411.4:c.2117-1169_2117-1168dup (PTPN22)	NP_036543.4:n.2117-1169_2117-1168dup
NM_012411.5:c.2117-1169_2117-1168dup (PTPN22)	NP_036543.4:n.2117-1169_2117-1168dup
NM_015967.5:c.2282-1169_2282-1168dup (PTPN22)	NP_057051.3:n.2282-1169_2282-1168dup
NM_015967.6:c.2282-1169_2282-1168dup (PTPN22)	NP_057051.3:n.2282-1169_2282-1168dup
NR_125965.1:n.414+5351_414+5352dup (AP4B1-AS1)
XM_011541221.1:c.2204-1169_2204-1168dup (PTPN22)	XP_011539523.1:n.2204-1169_2204-1168dup
XM_011541222.1:c.2251-1169_2251-1168dup (PTPN22)	XP_011539524.1:n.2251-1169_2251-1168dup
XM_011541224.1:c.1838-1169_1838-1168dup (PTPN22)	XP_011539526.1:n.1838-1169_1838-1168dup
XM_011541225.1:c.2179-1169_2179-1168dup (PTPN22)	XP_011539527.1:n.2179-1169_2179-1168dup
XM_011541225.2:c.2179-1169_2179-1168dup (PTPN22)	XP_011539527.1:n.2179-1169_2179-1168dup
XM_017001005.2:c.1937-1169_1937-1168dup (PTPN22)	XP_016856494.1:n.1937-1169_1937-1168dup
NM_015967.7:c.2282-1169_2282-1168dup (PTPN22)	NP_057051.3:n.2282-1169_2282-1168dup
NM_015967.8:c.2282-1169_2282-1168dup (PTPN22) MANE Select	NP_057051.4:n.2282-1169_2282-1168dup