Canonical Allele Identifier: CA1014923

Gene: PTPN22 AP4B1-AS1

Linked Data

• dbSNP Id: rs779963595
• ExAC: 1:114377491 CCAT / C
• MyVariant Identifiers: chr1:g.114377492_114377494del (hg19) ; chr1:g.113834870_113834872del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113834871_113834873del , CM000663.2:g.113834871_113834873del	GRCh38
NC_000001.10:g.114377493_114377495del , CM000663.1:g.114377493_114377495del	GRCh37
NC_000001.9:g.114179016_114179018del	NCBI36
NG_011432.1:g.41882_41884del

Transcript Alleles

HGVS	Amino-acid change
ENST00000359785.10:c.1894+38_1894+40del (PTPN22) MANE Select	ENSP00000352833.5:n.1894+38_1894+40del
ENST00000359785.9:c.1894+38_1894+40del (PTPN22)	ENSP00000352833.5:n.1894+38_1894+40del
ENST00000420377.6:c.1894+38_1894+40del (PTPN22)	ENSP00000388229.2:n.1894+38_1894+40del
ENST00000460620.5:c.469-15218_469-15216del (PTPN22)	ENSP00000433141.1:n.469-15218_469-15216del
ENST00000484147.5:n.1935+38_1935+40del (PTPN22)
ENST00000525799.1:c.1513+38_1513+40del (PTPN22)	ENSP00000432674.1:n.1513+38_1513+40del
ENST00000528414.5:c.1729+38_1729+40del (PTPN22)	ENSP00000435176.1:n.1729+38_1729+40del
ENST00000532224.5:c.*1172+38_*1172+40del (PTPN22)	ENSP00000431249.1:n.*1172+38_*1172+40del
ENST00000538253.5:c.1822+38_1822+40del (PTPN22)	ENSP00000439372.2:n.1822+38_1822+40del
NM_001193431.1:c.1894+38_1894+40del (PTPN22)	NP_001180360.1:n.1894+38_1894+40del
NM_001193431.2:c.1894+38_1894+40del (PTPN22)	NP_001180360.1:n.1894+38_1894+40del
NM_001308297.1:c.1822+38_1822+40del (PTPN22)	NP_001295226.1:n.1822+38_1822+40del
NM_012411.4:c.1729+38_1729+40del (PTPN22)	NP_036543.4:n.1729+38_1729+40del
NM_012411.5:c.1729+38_1729+40del (PTPN22)	NP_036543.4:n.1729+38_1729+40del
NM_015967.5:c.1894+38_1894+40del (PTPN22)	NP_057051.3:n.1894+38_1894+40del
NM_015967.6:c.1894+38_1894+40del (PTPN22)	NP_057051.3:n.1894+38_1894+40del
NR_125965.1:n.414+19399_414+19401del (AP4B1-AS1)
XM_011541221.1:c.1816+38_1816+40del (PTPN22)	XP_011539523.1:n.1816+38_1816+40del
XM_011541222.1:c.1894+38_1894+40del (PTPN22)	XP_011539524.1:n.1894+38_1894+40del
XM_011541223.1:c.1894+38_1894+40del (PTPN22)	XP_011539525.1:n.1894+38_1894+40del
XM_011541224.1:c.1450+38_1450+40del (PTPN22)	XP_011539526.1:n.1450+38_1450+40del
XM_011541225.1:c.1822+38_1822+40del (PTPN22)	XP_011539527.1:n.1822+38_1822+40del
XM_011541223.2:c.1894+38_1894+40del (PTPN22)	XP_011539525.1:n.1894+38_1894+40del
XM_011541225.2:c.1822+38_1822+40del (PTPN22)	XP_011539527.1:n.1822+38_1822+40del
XM_017001004.1:c.1894+38_1894+40del (PTPN22)	XP_016856493.1:n.1894+38_1894+40del
XM_017001005.2:c.1549+38_1549+40del (PTPN22)	XP_016856494.1:n.1549+38_1549+40del
NM_015967.7:c.1894+38_1894+40del (PTPN22)	NP_057051.3:n.1894+38_1894+40del
NM_015967.8:c.1894+38_1894+40del (PTPN22) MANE Select	NP_057051.4:n.1894+38_1894+40del