Canonical Allele Identifier: CA28969148

Gene: PTPN22 AP4B1-AS1

Linked Data

• dbSNP Id: rs201332745
• gnomAD v2: 1-114382024-TG-T
• gnomAD v3: 1-113839402-TG-T
• gnomAD v4: 1-113839402-TG-T
• MyVariant Identifiers: chr1:g.114382025del (hg19) ; chr1:g.114382025_114382027delinsAA (hg19) ; chr1:g.113839403del (hg38) ; chr1:g.113839403_113839405delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113839403del , CM000663.2:g.113839403del	GRCh38
NC_000001.10:g.114382025del , CM000663.1:g.114382025del	GRCh37
NC_000001.9:g.114183548del	NCBI36
NG_011432.1:g.37351del

Transcript Alleles

HGVS	Amino-acid change
ENST00000359785.10:c.916-783del (PTPN22) MANE Select	ENSP00000352833.5:n.916-783del
ENST00000359785.9:c.916-783del (PTPN22)	ENSP00000352833.5:n.916-783del
ENST00000420377.6:c.916-783del (PTPN22)	ENSP00000388229.2:n.916-783del
ENST00000460620.5:c.468+16979del (PTPN22)	ENSP00000433141.1:n.468+16979del
ENST00000484147.5:n.957-783del (PTPN22)
ENST00000525799.1:c.535-783del (PTPN22)	ENSP00000432674.1:n.535-783del
ENST00000528414.5:c.751-783del (PTPN22)	ENSP00000435176.1:n.751-783del
ENST00000532224.5:c.*194-783del (PTPN22)	ENSP00000431249.1:n.*194-783del
ENST00000538253.5:c.844-783del (PTPN22)	ENSP00000439372.2:n.844-783del
NM_001193431.1:c.916-783del (PTPN22)	NP_001180360.1:n.916-783del
NM_001193431.2:c.916-783del (PTPN22)	NP_001180360.1:n.916-783del
NM_001308297.1:c.844-783del (PTPN22)	NP_001295226.1:n.844-783del
NM_012411.4:c.751-783del (PTPN22)	NP_036543.4:n.751-783del
NM_012411.5:c.751-783del (PTPN22)	NP_036543.4:n.751-783del
NM_015967.5:c.916-783del (PTPN22)	NP_057051.3:n.916-783del
NM_015967.6:c.916-783del (PTPN22)	NP_057051.3:n.916-783del
NR_125965.1:n.414+23931del (AP4B1-AS1)
XM_011541221.1:c.838-783del (PTPN22)	XP_011539523.1:n.838-783del
XM_011541222.1:c.916-783del (PTPN22)	XP_011539524.1:n.916-783del
XM_011541223.1:c.916-783del (PTPN22)	XP_011539525.1:n.916-783del
XM_011541224.1:c.472-783del (PTPN22)	XP_011539526.1:n.472-783del
XM_011541225.1:c.844-783del (PTPN22)	XP_011539527.1:n.844-783del
XM_011541223.2:c.916-783del (PTPN22)	XP_011539525.1:n.916-783del
XM_011541225.2:c.844-783del (PTPN22)	XP_011539527.1:n.844-783del
XM_017001004.1:c.916-783del (PTPN22)	XP_016856493.1:n.916-783del
XM_017001005.2:c.571-783del (PTPN22)	XP_016856494.1:n.571-783del
XM_017001006.1:c.916-760del (PTPN22)	XP_016856495.1:n.916-760del
NM_015967.7:c.916-783del (PTPN22)	NP_057051.3:n.916-783del
NM_015967.8:c.916-783del (PTPN22) MANE Select	NP_057051.4:n.916-783del