Canonical Allele Identifier: CA525381718

Gene: PTPN22 AP4B1-AS1

Linked Data

• dbSNP Id: rs1390270590
• gnomAD v2: 1-114389650-TGCAGC-T
• MyVariant Identifiers: chr1:g.114389651_114389655del (hg19) ; chr1:g.113847029_113847033del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113847029_113847033del , CM000663.2:g.113847029_113847033del	GRCh38
NC_000001.10:g.114389651_114389655del , CM000663.1:g.114389651_114389655del	GRCh37
NC_000001.9:g.114191174_114191178del	NCBI36
NG_011432.1:g.29721_29725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359785.10:c.915+1507_915+1511del (PTPN22) MANE Select	ENSP00000352833.5:n.915+1507_915+1511del
ENST00000359785.9:c.915+1507_915+1511del (PTPN22)	ENSP00000352833.5:n.915+1507_915+1511del
ENST00000420377.6:c.915+1507_915+1511del (PTPN22)	ENSP00000388229.2:n.915+1507_915+1511del
ENST00000460620.5:c.468+9349_468+9353del (PTPN22)	ENSP00000433141.1:n.468+9349_468+9353del
ENST00000484147.5:n.956+1507_956+1511del (PTPN22)
ENST00000525799.1:c.534+1507_534+1511del (PTPN22)	ENSP00000432674.1:n.534+1507_534+1511del
ENST00000528414.5:c.750+7438_750+7442del (PTPN22)	ENSP00000435176.1:n.750+7438_750+7442del
ENST00000532224.5:c.*193+1507_*193+1511del (PTPN22)	ENSP00000431249.1:n.*193+1507_*193+1511del
ENST00000538253.5:c.843+1507_843+1511del (PTPN22)	ENSP00000439372.2:n.843+1507_843+1511del
NM_001193431.1:c.915+1507_915+1511del (PTPN22)	NP_001180360.1:n.915+1507_915+1511del
NM_001193431.2:c.915+1507_915+1511del (PTPN22)	NP_001180360.1:n.915+1507_915+1511del
NM_001308297.1:c.843+1507_843+1511del (PTPN22)	NP_001295226.1:n.843+1507_843+1511del
NM_012411.4:c.750+7438_750+7442del (PTPN22)	NP_036543.4:n.750+7438_750+7442del
NM_012411.5:c.750+7438_750+7442del (PTPN22)	NP_036543.4:n.750+7438_750+7442del
NM_015967.5:c.915+1507_915+1511del (PTPN22)	NP_057051.3:n.915+1507_915+1511del
NM_015967.6:c.915+1507_915+1511del (PTPN22)	NP_057051.3:n.915+1507_915+1511del
NR_125965.1:n.414+31557_414+31561del (AP4B1-AS1)
XM_011541221.1:c.837+1507_837+1511del (PTPN22)	XP_011539523.1:n.837+1507_837+1511del
XM_011541222.1:c.915+1507_915+1511del (PTPN22)	XP_011539524.1:n.915+1507_915+1511del
XM_011541223.1:c.915+1507_915+1511del (PTPN22)	XP_011539525.1:n.915+1507_915+1511del
XM_011541224.1:c.471+1507_471+1511del (PTPN22)	XP_011539526.1:n.471+1507_471+1511del
XM_011541225.1:c.843+1507_843+1511del (PTPN22)	XP_011539527.1:n.843+1507_843+1511del
XM_011541223.2:c.915+1507_915+1511del (PTPN22)	XP_011539525.1:n.915+1507_915+1511del
XM_011541225.2:c.843+1507_843+1511del (PTPN22)	XP_011539527.1:n.843+1507_843+1511del
XM_017001004.1:c.915+1507_915+1511del (PTPN22)	XP_016856493.1:n.915+1507_915+1511del
XM_017001005.2:c.570+1507_570+1511del (PTPN22)	XP_016856494.1:n.570+1507_570+1511del
XM_017001006.1:c.915+1507_915+1511del (PTPN22)	XP_016856495.1:n.915+1507_915+1511del
NM_015967.7:c.915+1507_915+1511del (PTPN22)	NP_057051.3:n.915+1507_915+1511del
NM_015967.8:c.915+1507_915+1511del (PTPN22) MANE Select	NP_057051.4:n.915+1507_915+1511del