Canonical Allele Identifier: CA1005950897

Gene: PTPN22 AP4B1-AS1

Linked Data

• gnomAD v3: 1-113846992-A-ATTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTCTTTTTCTTTTTTT
• gnomAD v4: 1-113846992-A-ATTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTCTTTTTCTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113847012_113847013insTTTTTCTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000663.2:g.113847012_113847013insTTTTTCTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000001.10:g.114389634_114389635insTTTTTCTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000663.1:g.114389634_114389635insTTTTTCTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000001.9:g.114191157_114191158insTTTTTCTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_011432.1:g.29761_29762insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359785.10:c.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22) MANE Select	ENSP00000352833.5:n.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAA...
ENST00000359785.9:c.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	ENSP00000352833.5:n.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAA...
ENST00000420377.6:c.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	ENSP00000388229.2:n.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAA...
ENST00000460620.5:c.468+9389_468+9390insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	ENSP00000433141.1:n.468+9389_468+9390insAAAAAAAGAAAAAGAAAAAAA...
ENST00000484147.5:n.956+1547_956+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)
ENST00000525799.1:c.534+1547_534+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	ENSP00000432674.1:n.534+1547_534+1548insAAAAAAAGAAAAAGAAAAAAA...
ENST00000528414.5:c.750+7478_750+7479insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	ENSP00000435176.1:n.750+7478_750+7479insAAAAAAAGAAAAAGAAAAAAA...
ENST00000532224.5:c.*193+1547_*193+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	ENSP00000431249.1:n.*193+1547_*193+1548insAAAAAAAGAAAAAGAAAAA...
ENST00000538253.5:c.843+1547_843+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	ENSP00000439372.2:n.843+1547_843+1548insAAAAAAAGAAAAAGAAAAAAA...
NM_001193431.1:c.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	NP_001180360.1:n.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGA...
NM_001193431.2:c.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	NP_001180360.1:n.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGA...
NM_001308297.1:c.843+1547_843+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	NP_001295226.1:n.843+1547_843+1548insAAAAAAAGAAAAAGAAAAAAAAGA...
NM_012411.4:c.750+7478_750+7479insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	NP_036543.4:n.750+7478_750+7479insAAAAAAAGAAAAAGAAAAAAAAGAAAA...
NM_012411.5:c.750+7478_750+7479insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	NP_036543.4:n.750+7478_750+7479insAAAAAAAGAAAAAGAAAAAAAAGAAAA...
NM_015967.5:c.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	NP_057051.3:n.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAA...
NM_015967.6:c.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	NP_057051.3:n.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAA...
NR_125965.1:n.414+31540_414+31541insTTTTTCTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT (AP4B1-AS1)
XM_011541221.1:c.837+1547_837+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	XP_011539523.1:n.837+1547_837+1548insAAAAAAAGAAAAAGAAAAAAAAGA...
XM_011541222.1:c.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	XP_011539524.1:n.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGA...
XM_011541223.1:c.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	XP_011539525.1:n.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGA...
XM_011541224.1:c.471+1547_471+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	XP_011539526.1:n.471+1547_471+1548insAAAAAAAGAAAAAGAAAAAAAAGA...
XM_011541225.1:c.843+1547_843+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	XP_011539527.1:n.843+1547_843+1548insAAAAAAAGAAAAAGAAAAAAAAGA...
XM_011541223.2:c.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	XP_011539525.1:n.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGA...
XM_011541225.2:c.843+1547_843+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	XP_011539527.1:n.843+1547_843+1548insAAAAAAAGAAAAAGAAAAAAAAGA...
XM_017001004.1:c.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	XP_016856493.1:n.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGA...
XM_017001005.2:c.570+1547_570+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	XP_016856494.1:n.570+1547_570+1548insAAAAAAAGAAAAAGAAAAAAAAGA...
XM_017001006.1:c.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	XP_016856495.1:n.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGA...
NM_015967.7:c.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22)	NP_057051.3:n.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAA...
NM_015967.8:c.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA (PTPN22) MANE Select	NP_057051.4:n.915+1547_915+1548insAAAAAAAGAAAAAGAAAAAAAAGAAAA...