Canonical Allele Identifier: CA28972838

Gene: PTPN22 AP4B1-AS1

Linked Data

• dbSNP Id: rs55893498
• gnomAD v2: 1-114389593-A-AG
• gnomAD v3: 1-113846971-A-AG
• gnomAD v4: 1-113846971-A-AG
• MyVariant Identifiers: chr1:g.114389593_114389594insG (hg19) ; chr1:g.113846971_113846972insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113846971_113846972insG , CM000663.2:g.113846971_113846972insG	GRCh38
NC_000001.10:g.114389593_114389594insG , CM000663.1:g.114389593_114389594insG	GRCh37
NC_000001.9:g.114191116_114191117insG	NCBI36
NG_011432.1:g.29782_29783insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359785.10:c.915+1568_915+1569insC (PTPN22) MANE Select	ENSP00000352833.5:n.915+1568_915+1569insC
ENST00000359785.9:c.915+1568_915+1569insC (PTPN22)	ENSP00000352833.5:n.915+1568_915+1569insC
ENST00000420377.6:c.915+1568_915+1569insC (PTPN22)	ENSP00000388229.2:n.915+1568_915+1569insC
ENST00000460620.5:c.468+9410_468+9411insC (PTPN22)	ENSP00000433141.1:n.468+9410_468+9411insC
ENST00000484147.5:n.956+1568_956+1569insC (PTPN22)
ENST00000525799.1:c.534+1568_534+1569insC (PTPN22)	ENSP00000432674.1:n.534+1568_534+1569insC
ENST00000528414.5:c.750+7499_750+7500insC (PTPN22)	ENSP00000435176.1:n.750+7499_750+7500insC
ENST00000532224.5:c.*193+1568_*193+1569insC (PTPN22)	ENSP00000431249.1:n.*193+1568_*193+1569insC
ENST00000538253.5:c.843+1568_843+1569insC (PTPN22)	ENSP00000439372.2:n.843+1568_843+1569insC
NM_001193431.1:c.915+1568_915+1569insC (PTPN22)	NP_001180360.1:n.915+1568_915+1569insC
NM_001193431.2:c.915+1568_915+1569insC (PTPN22)	NP_001180360.1:n.915+1568_915+1569insC
NM_001308297.1:c.843+1568_843+1569insC (PTPN22)	NP_001295226.1:n.843+1568_843+1569insC
NM_012411.4:c.750+7499_750+7500insC (PTPN22)	NP_036543.4:n.750+7499_750+7500insC
NM_012411.5:c.750+7499_750+7500insC (PTPN22)	NP_036543.4:n.750+7499_750+7500insC
NM_015967.5:c.915+1568_915+1569insC (PTPN22)	NP_057051.3:n.915+1568_915+1569insC
NM_015967.6:c.915+1568_915+1569insC (PTPN22)	NP_057051.3:n.915+1568_915+1569insC
NR_125965.1:n.414+31499_414+31500insG (AP4B1-AS1)
XM_011541221.1:c.837+1568_837+1569insC (PTPN22)	XP_011539523.1:n.837+1568_837+1569insC
XM_011541222.1:c.915+1568_915+1569insC (PTPN22)	XP_011539524.1:n.915+1568_915+1569insC
XM_011541223.1:c.915+1568_915+1569insC (PTPN22)	XP_011539525.1:n.915+1568_915+1569insC
XM_011541224.1:c.471+1568_471+1569insC (PTPN22)	XP_011539526.1:n.471+1568_471+1569insC
XM_011541225.1:c.843+1568_843+1569insC (PTPN22)	XP_011539527.1:n.843+1568_843+1569insC
XM_011541223.2:c.915+1568_915+1569insC (PTPN22)	XP_011539525.1:n.915+1568_915+1569insC
XM_011541225.2:c.843+1568_843+1569insC (PTPN22)	XP_011539527.1:n.843+1568_843+1569insC
XM_017001004.1:c.915+1568_915+1569insC (PTPN22)	XP_016856493.1:n.915+1568_915+1569insC
XM_017001005.2:c.570+1568_570+1569insC (PTPN22)	XP_016856494.1:n.570+1568_570+1569insC
XM_017001006.1:c.915+1568_915+1569insC (PTPN22)	XP_016856495.1:n.915+1568_915+1569insC
NM_015967.7:c.915+1568_915+1569insC (PTPN22)	NP_057051.3:n.915+1568_915+1569insC
NM_015967.8:c.915+1568_915+1569insC (PTPN22) MANE Select	NP_057051.4:n.915+1568_915+1569insC