Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113813857_113813860delinsGTAC , CM000663.2:g.113813857_113813860delinsGTAC	GRCh38
NC_000001.10:g.114356479_114356482delinsGTAC , CM000663.1:g.114356479_114356482delinsGTAC	GRCh37
NC_000001.9:g.114158002_114158005delinsGTAC	NCBI36
NG_011432.1:g.62894_62897delinsGTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359785.10:c.1045_1048delinsGTAC (PTPN22) MANE Select	ENSP00000352833.5:n.1045_1048delinsGTAC
ENST00000359785.9:c.1045_1048delinsGTAC (PTPN22)	ENSP00000352833.5:n.1045_1048delinsGTAC
ENST00000460620.5:c.1116_1119delinsGTAC (PTPN22)	ENSP00000433141.1:n.1116_1119delinsGTAC
ENST00000528414.5:c.1045_1048delinsGTAC (PTPN22)	ENSP00000435176.1:n.1045_1048delinsGTAC
ENST00000538253.5:c.1045_1048delinsGTAC (PTPN22)	ENSP00000439372.2:n.1045_1048delinsGTAC
NM_001193431.1:c.1045_1048delinsGTAC (PTPN22)	NP_001180360.1:n.1045_1048delinsGTAC
NM_001193431.2:c.1045_1048delinsGTAC (PTPN22)	NP_001180360.1:n.1045_1048delinsGTAC
NM_001308297.1:c.1045_1048delinsGTAC (PTPN22)	NP_001295226.1:n.1045_1048delinsGTAC
NM_012411.4:c.1045_1048delinsGTAC (PTPN22)	NP_036543.4:n.1045_1048delinsGTAC
NM_012411.5:c.1045_1048delinsGTAC (PTPN22)	NP_036543.4:n.1045_1048delinsGTAC
NM_015967.5:c.1045_1048delinsGTAC (PTPN22)	NP_057051.3:n.1045_1048delinsGTAC
NM_015967.6:c.1045_1048delinsGTAC (PTPN22)	NP_057051.3:n.1045_1048delinsGTAC
NR_125965.1:n.215-530_215-527delinsGTAC (AP4B1-AS1)
XM_011541221.1:c.1045_1048delinsGTAC (PTPN22)	XP_011539523.1:n.1045_1048delinsGTAC
XM_011541222.1:c.1116_1119delinsGTAC (PTPN22)	XP_011539524.1:n.1116_1119delinsGTAC
XM_011541224.1:c.1045_1048delinsGTAC (PTPN22)	XP_011539526.1:n.1045_1048delinsGTAC
XM_011541225.1:c.1116_1119delinsGTAC (PTPN22)	XP_011539527.1:n.1116_1119delinsGTAC
XM_011541225.2:c.1116_1119delinsGTAC (PTPN22)	XP_011539527.1:n.1116_1119delinsGTAC
XM_017001005.2:c.1045_1048delinsGTAC (PTPN22)	XP_016856494.1:n.1045_1048delinsGTAC
NM_015967.7:c.1045_1048delinsGTAC (PTPN22)	NP_057051.3:n.1045_1048delinsGTAC
NM_015967.8:c.1045_1048delinsGTAC (PTPN22) MANE Select	NP_057051.4:n.1045_1048delinsGTAC

HGVS	Amino-acid Change
ENST00000359785.10:c.1045_1048delinsGTAC (PTPN22) MANE Select	ENSP00000352833.5:n.1045_1048delinsGTAC
ENST00000359785.9:c.1045_1048delinsGTAC (PTPN22)	ENSP00000352833.5:n.1045_1048delinsGTAC
ENST00000460620.5:c.1116_1119delinsGTAC (PTPN22)	ENSP00000433141.1:n.1116_1119delinsGTAC
ENST00000528414.5:c.1045_1048delinsGTAC (PTPN22)	ENSP00000435176.1:n.1045_1048delinsGTAC
ENST00000538253.5:c.1045_1048delinsGTAC (PTPN22)	ENSP00000439372.2:n.1045_1048delinsGTAC
NM_001193431.1:c.1045_1048delinsGTAC (PTPN22)	NP_001180360.1:n.1045_1048delinsGTAC
NM_001193431.2:c.1045_1048delinsGTAC (PTPN22)	NP_001180360.1:n.1045_1048delinsGTAC
NM_001308297.1:c.1045_1048delinsGTAC (PTPN22)	NP_001295226.1:n.1045_1048delinsGTAC
NM_012411.4:c.1045_1048delinsGTAC (PTPN22)	NP_036543.4:n.1045_1048delinsGTAC
NM_012411.5:c.1045_1048delinsGTAC (PTPN22)	NP_036543.4:n.1045_1048delinsGTAC
NM_015967.5:c.1045_1048delinsGTAC (PTPN22)	NP_057051.3:n.1045_1048delinsGTAC
NM_015967.6:c.1045_1048delinsGTAC (PTPN22)	NP_057051.3:n.1045_1048delinsGTAC
NR_125965.1:n.215-530_215-527delinsGTAC (AP4B1-AS1)
XM_011541221.1:c.1045_1048delinsGTAC (PTPN22)	XP_011539523.1:n.1045_1048delinsGTAC
XM_011541222.1:c.1116_1119delinsGTAC (PTPN22)	XP_011539524.1:n.1116_1119delinsGTAC
XM_011541224.1:c.1045_1048delinsGTAC (PTPN22)	XP_011539526.1:n.1045_1048delinsGTAC
XM_011541225.1:c.1116_1119delinsGTAC (PTPN22)	XP_011539527.1:n.1116_1119delinsGTAC
XM_011541225.2:c.1116_1119delinsGTAC (PTPN22)	XP_011539527.1:n.1116_1119delinsGTAC
XM_017001005.2:c.1045_1048delinsGTAC (PTPN22)	XP_016856494.1:n.1045_1048delinsGTAC
NM_015967.7:c.1045_1048delinsGTAC (PTPN22)	NP_057051.3:n.1045_1048delinsGTAC
NM_015967.8:c.1045_1048delinsGTAC (PTPN22) MANE Select	NP_057051.4:n.1045_1048delinsGTAC