Canonical Allele Identifier: CA885749533

Gene: PTPN22 AP4B1-AS1

Linked Data

• dbSNP Id: rs1448720239
• gnomAD v4: 1-113829826-GCTTTTAAAATGTATT-G
• MyVariant Identifiers: chr1:g.114372449_114372463del (hg19) ; chr1:g.113829827_113829841del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113829832_113829846del , CM000663.2:g.113829832_113829846del	GRCh38
NC_000001.10:g.114372454_114372468del , CM000663.1:g.114372454_114372468del	GRCh37
NC_000001.9:g.114173977_114173991del	NCBI36
NG_011432.1:g.46913_46927del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359785.10:c.2134+108_2135-120del (PTPN22) MANE Select	ENSP00000352833.5:n.2134+108_2135-120del
ENST00000359785.9:c.2134+108_2135-120del (PTPN22)	ENSP00000352833.5:n.2134+108_2135-120del
ENST00000420377.6:c.2134+108_2135-120del (PTPN22)	ENSP00000388229.2:n.2134+108_2135-120del
ENST00000460620.5:c.469-10187_469-10173del (PTPN22)	ENSP00000433141.1:n.469-10187_469-10173del
ENST00000525799.1:c.1753+108_1754-120del (PTPN22)	ENSP00000432674.1:n.1753+108_1754-120del
ENST00000528414.5:c.1969+108_1970-120del (PTPN22)	ENSP00000435176.1:n.1969+108_1970-120del
ENST00000532224.5:c.*1412+108_*1413-120del (PTPN22)	ENSP00000431249.1:n.*1412+108_*1413-120del
ENST00000538253.5:c.2062+108_2063-120del (PTPN22)	ENSP00000439372.2:n.2062+108_2063-120del
NM_001193431.1:c.2050+108_2051-120del (PTPN22)	NP_001180360.1:n.2050+108_2051-120del
NM_001193431.2:c.2050+108_2051-120del (PTPN22)	NP_001180360.1:n.2050+108_2051-120del
NM_001308297.1:c.2062+108_2063-120del (PTPN22)	NP_001295226.1:n.2062+108_2063-120del
NM_012411.4:c.1969+108_1970-120del (PTPN22)	NP_036543.4:n.1969+108_1970-120del
NM_012411.5:c.1969+108_1970-120del (PTPN22)	NP_036543.4:n.1969+108_1970-120del
NM_015967.5:c.2134+108_2135-120del (PTPN22)	NP_057051.3:n.2134+108_2135-120del
NM_015967.6:c.2134+108_2135-120del (PTPN22)	NP_057051.3:n.2134+108_2135-120del
NR_125965.1:n.414+14360_414+14374del (AP4B1-AS1)
XM_011541221.1:c.2056+108_2057-120del (PTPN22)	XP_011539523.1:n.2056+108_2057-120del
XM_011541222.1:c.2134+108_2135-120del (PTPN22)	XP_011539524.1:n.2134+108_2135-120del
XM_011541224.1:c.1690+108_1691-120del (PTPN22)	XP_011539526.1:n.1690+108_1691-120del
XM_011541225.1:c.2062+108_2063-120del (PTPN22)	XP_011539527.1:n.2062+108_2063-120del
XM_011541225.2:c.2062+108_2063-120del (PTPN22)	XP_011539527.1:n.2062+108_2063-120del
XM_017001004.1:c.2134+108_2135-120del (PTPN22)	XP_016856493.1:n.2134+108_2135-120del
XM_017001005.2:c.1789+108_1790-120del (PTPN22)	XP_016856494.1:n.1789+108_1790-120del
NM_015967.7:c.2134+108_2135-120del (PTPN22)	NP_057051.3:n.2134+108_2135-120del
NM_015967.8:c.2134+108_2135-120del (PTPN22) MANE Select	NP_057051.4:n.2134+108_2135-120del