Canonical Allele Identifier: CA606672161

Gene: PTPRQ

Linked Data

• dbSNP Id: rs1341631465
• gnomAD v2: 12-80849502-CATAAAAAAG-C
• gnomAD v3: 12-80460663-AATCTTTTTT-A
• gnomAD v4: 12-80460663-AATCTTTTTT-A
• MyVariant Identifiers: chr12:g.80849503_80849511del (hg19) ; chr12:g.80460664_80460672del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80460666_80460674del , CM000674.2:g.80460666_80460674del	GRCh38
NC_000012.11:g.80849505_80849513del , CM000674.1:g.80849505_80849513del	GRCh37
NC_000012.10:g.79373636_79373644del	NCBI36
NG_034052.1:g.21321_21329del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.674_682del MANE Select	ENSP00000495607.1:p.Ser225_Leu227del
ENST00000614701.4:c.674_682del	ENSP00000482885.1:p.Ser225_Leu227del
ENST00000616559.4:c.800_808del	ENSP00000483259.1:p.Ser267_Leu269del
NM_001145026.1:c.674_682del	NP_001138498.1:p.Ser225_Leu227del
XM_011538290.1:c.674_682del	XP_011536592.1:p.Ser225_Leu227del
XM_017019273.1:c.1340_1348del	XP_016874762.1:p.Ser447_Leu449del
XM_017019274.1:c.1340_1348del	XP_016874763.1:p.Ser447_Leu449del
XM_017019275.1:c.1340_1348del	XP_016874764.1:p.Ser447_Leu449del
XR_001748688.1:n.1477_1485del
XR_001748689.1:n.1477_1485del
NM_001145026.2:c.674_682del MANE Select	NP_001138498.1:p.Ser225_Leu227del