Canonical Allele Identifier: CA2647207453

Gene: PTPN22 AP4B1-AS1

Linked Data

• gnomAD v4: 1-113834956-TGGAGGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113834960_113834966del , CM000663.2:g.113834960_113834966del	GRCh38
NC_000001.10:g.114377582_114377588del , CM000663.1:g.114377582_114377588del	GRCh37
NC_000001.9:g.114179105_114179111del	NCBI36
NG_011432.1:g.41791_41797del

Transcript Alleles

HGVS	Amino-acid change
ENST00000359785.10:c.1841_1847del (PTPN22) MANE Select	ENSP00000352833.5:p.Pro614HisfsTer?
ENST00000359785.9:c.1841_1847del (PTPN22)	ENSP00000352833.5:p.Pro614HisfsTer?
ENST00000420377.6:c.1841_1847del (PTPN22)	ENSP00000388229.2:p.Pro614HisfsTer?
ENST00000460620.5:c.469-15309_469-15303del (PTPN22)	ENSP00000433141.1:n.469-15309_469-15303de...
ENST00000484147.5:n.1882_1888del (PTPN22)
ENST00000525799.1:c.1460_1466del (PTPN22)	ENSP00000432674.1:p.Pro487HisfsTer?
ENST00000528414.5:c.1676_1682del (PTPN22)	ENSP00000435176.1:p.Pro559HisfsTer?
ENST00000532224.5:c.*1119_*1125del (PTPN22)	ENSP00000431249.1:n.*1119_*1125del
ENST00000538253.5:c.1769_1775del (PTPN22)	ENSP00000439372.2:p.Pro590HisfsTer?
NM_001193431.1:c.1841_1847del (PTPN22)	NP_001180360.1:p.Pro614HisfsTer?
NM_001193431.2:c.1841_1847del (PTPN22)	NP_001180360.1:p.Pro614HisfsTer?
NM_001308297.1:c.1769_1775del (PTPN22)	NP_001295226.1:p.Pro590HisfsTer?
NM_012411.4:c.1676_1682del (PTPN22)	NP_036543.4:p.Pro559HisfsTer?
NM_012411.5:c.1676_1682del (PTPN22)	NP_036543.4:p.Pro559HisfsTer?
NM_015967.5:c.1841_1847del (PTPN22)	NP_057051.3:p.Pro614HisfsTer?
NM_015967.6:c.1841_1847del (PTPN22)	NP_057051.3:p.Pro614HisfsTer?
NR_125965.1:n.414+19488_414+19494del (AP4B1-AS1)
XM_011541221.1:c.1763_1769del (PTPN22)	XP_011539523.1:p.Pro588HisfsTer?
XM_011541222.1:c.1841_1847del (PTPN22)	XP_011539524.1:p.Pro614HisfsTer?
XM_011541223.1:c.1841_1847del (PTPN22)	XP_011539525.1:p.Pro614HisfsTer?
XM_011541224.1:c.1397_1403del (PTPN22)	XP_011539526.1:p.Pro466HisfsTer?
XM_011541225.1:c.1769_1775del (PTPN22)	XP_011539527.1:p.Pro590HisfsTer?
XM_011541223.2:c.1841_1847del (PTPN22)	XP_011539525.1:p.Pro614HisfsTer?
XM_011541225.2:c.1769_1775del (PTPN22)	XP_011539527.1:p.Pro590HisfsTer?
XM_017001004.1:c.1841_1847del (PTPN22)	XP_016856493.1:p.Pro614HisfsTer?
XM_017001005.2:c.1496_1502del (PTPN22)	XP_016856494.1:p.Pro499HisfsTer?
NM_015967.7:c.1841_1847del (PTPN22)	NP_057051.3:p.Pro614HisfsTer?
NM_015967.8:c.1841_1847del (PTPN22) MANE Select	NP_057051.4:p.Pro614HisfsTer?