Canonical Allele Identifier: CA525380728

Gene: PTPN22 AP4B1-AS1

Linked Data

• dbSNP Id: rs1460854440
• gnomAD v2: 1-114382029-TAAG-T
• gnomAD v3: 1-113839407-TAAG-T
• gnomAD v4: 1-113839407-TAAG-T
• MyVariant Identifiers: chr1:g.114382030_114382032del (hg19) ; chr1:g.113839408_113839410del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113839408_113839410del , CM000663.2:g.113839408_113839410del	GRCh38
NC_000001.10:g.114382030_114382032del , CM000663.1:g.114382030_114382032del	GRCh37
NC_000001.9:g.114183553_114183555del	NCBI36
NG_011432.1:g.37344_37346del

Transcript Alleles

HGVS	Amino-acid change
ENST00000359785.10:c.916-790_916-788del (PTPN22) MANE Select	ENSP00000352833.5:n.916-790_916-788del
ENST00000359785.9:c.916-790_916-788del (PTPN22)	ENSP00000352833.5:n.916-790_916-788del
ENST00000420377.6:c.916-790_916-788del (PTPN22)	ENSP00000388229.2:n.916-790_916-788del
ENST00000460620.5:c.468+16972_468+16974del (PTPN22)	ENSP00000433141.1:n.468+16972_468+16974de...
ENST00000484147.5:n.957-790_957-788del (PTPN22)
ENST00000525799.1:c.535-790_535-788del (PTPN22)	ENSP00000432674.1:n.535-790_535-788del
ENST00000528414.5:c.751-790_751-788del (PTPN22)	ENSP00000435176.1:n.751-790_751-788del
ENST00000532224.5:c.*194-790_*194-788del (PTPN22)	ENSP00000431249.1:n.*194-790_*194-788del
ENST00000538253.5:c.844-790_844-788del (PTPN22)	ENSP00000439372.2:n.844-790_844-788del
NM_001193431.1:c.916-790_916-788del (PTPN22)	NP_001180360.1:n.916-790_916-788del
NM_001193431.2:c.916-790_916-788del (PTPN22)	NP_001180360.1:n.916-790_916-788del
NM_001308297.1:c.844-790_844-788del (PTPN22)	NP_001295226.1:n.844-790_844-788del
NM_012411.4:c.751-790_751-788del (PTPN22)	NP_036543.4:n.751-790_751-788del
NM_012411.5:c.751-790_751-788del (PTPN22)	NP_036543.4:n.751-790_751-788del
NM_015967.5:c.916-790_916-788del (PTPN22)	NP_057051.3:n.916-790_916-788del
NM_015967.6:c.916-790_916-788del (PTPN22)	NP_057051.3:n.916-790_916-788del
NR_125965.1:n.414+23936_414+23938del (AP4B1-AS1)
XM_011541221.1:c.838-790_838-788del (PTPN22)	XP_011539523.1:n.838-790_838-788del
XM_011541222.1:c.916-790_916-788del (PTPN22)	XP_011539524.1:n.916-790_916-788del
XM_011541223.1:c.916-790_916-788del (PTPN22)	XP_011539525.1:n.916-790_916-788del
XM_011541224.1:c.472-790_472-788del (PTPN22)	XP_011539526.1:n.472-790_472-788del
XM_011541225.1:c.844-790_844-788del (PTPN22)	XP_011539527.1:n.844-790_844-788del
XM_011541223.2:c.916-790_916-788del (PTPN22)	XP_011539525.1:n.916-790_916-788del
XM_011541225.2:c.844-790_844-788del (PTPN22)	XP_011539527.1:n.844-790_844-788del
XM_017001004.1:c.916-790_916-788del (PTPN22)	XP_016856493.1:n.916-790_916-788del
XM_017001005.2:c.571-790_571-788del (PTPN22)	XP_016856494.1:n.571-790_571-788del
XM_017001006.1:c.916-767_916-765del (PTPN22)	XP_016856495.1:n.916-767_916-765del
NM_015967.7:c.916-790_916-788del (PTPN22)	NP_057051.3:n.916-790_916-788del
NM_015967.8:c.916-790_916-788del (PTPN22) MANE Select	NP_057051.4:n.916-790_916-788del