Canonical Allele Identifier: CA885741907

Gene: PTPN22 AP4B1-AS1

Linked Data

• dbSNP Id: rs1271065274
• gnomAD v3: 1-113813996-AT-A
• gnomAD v4: 1-113813996-AT-A
• MyVariant Identifiers: chr1:g.114356619del (hg19) ; chr1:g.113813997del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113814001del , CM000663.2:g.113814001del	GRCh38
NC_000001.10:g.114356623del , CM000663.1:g.114356623del	GRCh37
NC_000001.9:g.114158146del	NCBI36
NG_011432.1:g.62757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359785.10:c.*908del (PTPN22) MANE Select	ENSP00000352833.5:n.*908del
ENST00000359785.9:c.*908del (PTPN22)	ENSP00000352833.5:n.*908del
ENST00000460620.5:c.*979del (PTPN22)	ENSP00000433141.1:n.*979del
ENST00000528414.5:c.*908del (PTPN22)	ENSP00000435176.1:n.*908del
ENST00000538253.5:c.*908del (PTPN22)	ENSP00000439372.2:n.*908del
NM_001193431.1:c.*908del (PTPN22)	NP_001180360.1:n.*908del
NM_001193431.2:c.*908del (PTPN22)	NP_001180360.1:n.*908del
NM_001308297.1:c.*908del (PTPN22)	NP_001295226.1:n.*908del
NM_012411.4:c.*908del (PTPN22)	NP_036543.4:n.*908del
NM_012411.5:c.*908del (PTPN22)	NP_036543.4:n.*908del
NM_015967.5:c.*908del (PTPN22)	NP_057051.3:n.*908del
NM_015967.6:c.*908del (PTPN22)	NP_057051.3:n.*908del
NR_125965.1:n.215-386del (AP4B1-AS1)
XM_011541221.1:c.*908del (PTPN22)	XP_011539523.1:n.*908del
XM_011541222.1:c.*979del (PTPN22)	XP_011539524.1:n.*979del
XM_011541224.1:c.*908del (PTPN22)	XP_011539526.1:n.*908del
XM_011541225.1:c.*979del (PTPN22)	XP_011539527.1:n.*979del
XM_011541225.2:c.*979del (PTPN22)	XP_011539527.1:n.*979del
XM_017001005.2:c.*908del (PTPN22)	XP_016856494.1:n.*908del
NM_015967.7:c.*908del (PTPN22)	NP_057051.3:n.*908del
NM_015967.8:c.*908del (PTPN22) MANE Select	NP_057051.4:n.*908del