Canonical Allele Identifier: CA2620022623

Gene: PTPRQ

Linked Data

• gnomAD v4: 12-80460690-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80460692del , CM000674.2:g.80460692del	GRCh38
NC_000012.11:g.80849486del , CM000674.1:g.80849486del	GRCh37
NC_000012.10:g.79373617del	NCBI36
NG_034052.1:g.21347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.700del MANE Select	ENSP00000495607.1:p.Ser234LeufsTer20
ENST00000614701.4:c.700del	ENSP00000482885.1:p.Ser234LeufsTer20
ENST00000616559.4:c.826del	ENSP00000483259.1:p.Ser276LeufsTer20
NM_001145026.1:c.700del	NP_001138498.1:p.Ser234LeufsTer20
XM_011538290.1:c.700del	XP_011536592.1:p.Ser234LeufsTer20
XM_017019273.1:c.1366del	XP_016874762.1:p.Ser456LeufsTer20
XM_017019274.1:c.1366del	XP_016874763.1:p.Ser456LeufsTer20
XM_017019275.1:c.1366del	XP_016874764.1:p.Ser456LeufsTer20
XR_001748688.1:n.1503del
XR_001748689.1:n.1503del
NM_001145026.2:c.700del MANE Select	NP_001138498.1:p.Ser234LeufsTer20