Canonical Allele Identifier: CA2647207456

Gene: PTPN22 AP4B1-AS1

Linked Data

• gnomAD v4: 1-113834959-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113834964_113834965dup , CM000663.2:g.113834964_113834965dup	GRCh38
NC_000001.10:g.114377586_114377587dup , CM000663.1:g.114377586_114377587dup	GRCh37
NC_000001.9:g.114179109_114179110dup	NCBI36
NG_011432.1:g.41793_41794dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359785.10:c.1843_1844dup (PTPN22) MANE Select	ENSP00000352833.5:p.Pro616LeufsTer?
ENST00000359785.9:c.1843_1844dup (PTPN22)	ENSP00000352833.5:p.Pro616LeufsTer?
ENST00000420377.6:c.1843_1844dup (PTPN22)	ENSP00000388229.2:p.Pro616LeufsTer?
ENST00000460620.5:c.469-15307_469-15306dup (PTPN22)	ENSP00000433141.1:n.469-15307_469-15306dup
ENST00000484147.5:n.1884_1885dup (PTPN22)
ENST00000525799.1:c.1462_1463dup (PTPN22)	ENSP00000432674.1:p.Pro489LeufsTer?
ENST00000528414.5:c.1678_1679dup (PTPN22)	ENSP00000435176.1:p.Pro561LeufsTer?
ENST00000532224.5:c.*1121_*1122dup (PTPN22)	ENSP00000431249.1:n.*1121_*1122dup
ENST00000538253.5:c.1771_1772dup (PTPN22)	ENSP00000439372.2:p.Pro592LeufsTer?
NM_001193431.1:c.1843_1844dup (PTPN22)	NP_001180360.1:p.Pro616LeufsTer?
NM_001193431.2:c.1843_1844dup (PTPN22)	NP_001180360.1:p.Pro616LeufsTer?
NM_001308297.1:c.1771_1772dup (PTPN22)	NP_001295226.1:p.Pro592LeufsTer?
NM_012411.4:c.1678_1679dup (PTPN22)	NP_036543.4:p.Pro561LeufsTer?
NM_012411.5:c.1678_1679dup (PTPN22)	NP_036543.4:p.Pro561LeufsTer?
NM_015967.5:c.1843_1844dup (PTPN22)	NP_057051.3:p.Pro616LeufsTer?
NM_015967.6:c.1843_1844dup (PTPN22)	NP_057051.3:p.Pro616LeufsTer?
NR_125965.1:n.414+19492_414+19493dup (AP4B1-AS1)
XM_011541221.1:c.1765_1766dup (PTPN22)	XP_011539523.1:p.Pro590LeufsTer?
XM_011541222.1:c.1843_1844dup (PTPN22)	XP_011539524.1:p.Pro616LeufsTer?
XM_011541223.1:c.1843_1844dup (PTPN22)	XP_011539525.1:p.Pro616LeufsTer?
XM_011541224.1:c.1399_1400dup (PTPN22)	XP_011539526.1:p.Pro468LeufsTer?
XM_011541225.1:c.1771_1772dup (PTPN22)	XP_011539527.1:p.Pro592LeufsTer?
XM_011541223.2:c.1843_1844dup (PTPN22)	XP_011539525.1:p.Pro616LeufsTer?
XM_011541225.2:c.1771_1772dup (PTPN22)	XP_011539527.1:p.Pro592LeufsTer?
XM_017001004.1:c.1843_1844dup (PTPN22)	XP_016856493.1:p.Pro616LeufsTer?
XM_017001005.2:c.1498_1499dup (PTPN22)	XP_016856494.1:p.Pro501LeufsTer?
NM_015967.7:c.1843_1844dup (PTPN22)	NP_057051.3:p.Pro616LeufsTer?
NM_015967.8:c.1843_1844dup (PTPN22) MANE Select	NP_057051.4:p.Pro616LeufsTer?