Canonical Allele Identifier: CA2574032924

Gene: PTPN22 AP4B1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113829961del , CM000663.2:g.113829961del	GRCh38
NC_000001.10:g.114372583del , CM000663.1:g.114372583del	GRCh37
NC_000001.9:g.114174106del	NCBI36
NG_011432.1:g.46793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359785.10:c.2122del (PTPN22) MANE Select	ENSP00000352833.5:p.Ala708ProfsTer11
ENST00000359785.9:c.2122del (PTPN22)	ENSP00000352833.5:p.Ala708ProfsTer11
ENST00000420377.6:c.2122del (PTPN22)	ENSP00000388229.2:p.Ala708ProfsTer11
ENST00000460620.5:c.469-10307del (PTPN22)	ENSP00000433141.1:n.469-10307del
ENST00000525799.1:c.1741del (PTPN22)	ENSP00000432674.1:p.Ala581ProfsTer11
ENST00000528414.5:c.1957del (PTPN22)	ENSP00000435176.1:p.Ala653ProfsTer11
ENST00000532224.5:c.*1400del (PTPN22)	ENSP00000431249.1:n.*1400del
ENST00000538253.5:c.2050del (PTPN22)	ENSP00000439372.2:p.Ala684ProfsTer11
NM_001193431.1:c.2038del (PTPN22)	NP_001180360.1:p.Ala680ProfsTer11
NM_001193431.2:c.2038del (PTPN22)	NP_001180360.1:p.Ala680ProfsTer11
NM_001308297.1:c.2050del (PTPN22)	NP_001295226.1:p.Ala684ProfsTer11
NM_012411.4:c.1957del (PTPN22)	NP_036543.4:p.Ala653ProfsTer11
NM_012411.5:c.1957del (PTPN22)	NP_036543.4:p.Ala653ProfsTer11
NM_015967.5:c.2122del (PTPN22)	NP_057051.3:p.Ala708ProfsTer11
NM_015967.6:c.2122del (PTPN22)	NP_057051.3:p.Ala708ProfsTer11
NR_125965.1:n.414+14489del (AP4B1-AS1)
XM_011541221.1:c.2044del (PTPN22)	XP_011539523.1:p.Ala682ProfsTer11
XM_011541222.1:c.2122del (PTPN22)	XP_011539524.1:p.Ala708ProfsTer11
XM_011541224.1:c.1678del (PTPN22)	XP_011539526.1:p.Ala560ProfsTer11
XM_011541225.1:c.2050del (PTPN22)	XP_011539527.1:p.Ala684ProfsTer11
XM_011541225.2:c.2050del (PTPN22)	XP_011539527.1:p.Ala684ProfsTer11
XM_017001004.1:c.2122del (PTPN22)	XP_016856493.1:p.Ala708ProfsTer11
XM_017001005.2:c.1777del (PTPN22)	XP_016856494.1:p.Ala593ProfsTer11
NM_015967.7:c.2122del (PTPN22)	NP_057051.3:p.Ala708ProfsTer11
NM_015967.8:c.2122del (PTPN22) MANE Select	NP_057051.4:p.Ala708ProfsTer11