Canonical Allele Identifier: CA2620023741

Gene: PTPRQ

Linked Data

• dbSNP Id: rs2120610597
• gnomAD v4: 12-80484441-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484442del , CM000674.2:g.80484442del	GRCh38
NC_000012.11:g.80878221del , CM000674.1:g.80878221del	GRCh37
NC_000012.10:g.79402352del	NCBI36
NG_034052.1:g.45097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.1196del MANE Select	ENSP00000495607.1:p.Ala399GlufsTer10
ENST00000614701.4:c.1196del	ENSP00000482885.1:p.Ala399GlufsTer10
ENST00000616559.4:c.1322del	ENSP00000483259.1:p.Ala441GlufsTer10
NM_001145026.1:c.1196del	NP_001138498.1:p.Ala399GlufsTer10
XM_011538290.1:c.1196del	XP_011536592.1:p.Ala399GlufsTer10
XM_017019273.1:c.1862del	XP_016874762.1:p.Ala621GlufsTer10
XM_017019274.1:c.1862del	XP_016874763.1:p.Ala621GlufsTer10
XM_017019275.1:c.1862del	XP_016874764.1:p.Ala621GlufsTer10
XR_001748688.1:n.1999del
XR_001748689.1:n.1999del
NM_001145026.2:c.1196del MANE Select	NP_001138498.1:p.Ala399GlufsTer10