Canonical Allele Identifier: CA2620023744

Gene: PTPRQ

Linked Data

• gnomAD v4: 12-80484584-TTTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484586_80484589del , CM000674.2:g.80484586_80484589del	GRCh38
NC_000012.11:g.80878365_80878368del , CM000674.1:g.80878365_80878368del	GRCh37
NC_000012.10:g.79402496_79402499del	NCBI36
NG_034052.1:g.45241_45244del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.1340_1343del MANE Select	ENSP00000495607.1:p.Leu447SerfsTer8
ENST00000614701.4:c.1340_1343del	ENSP00000482885.1:p.Leu447SerfsTer8
ENST00000616559.4:c.1466_1469del	ENSP00000483259.1:p.Leu489SerfsTer8
NM_001145026.1:c.1340_1343del	NP_001138498.1:p.Leu447SerfsTer8
XM_011538290.1:c.1340_1343del	XP_011536592.1:p.Leu447SerfsTer8
XM_017019273.1:c.2006_2009del	XP_016874762.1:p.Leu669SerfsTer8
XM_017019274.1:c.2006_2009del	XP_016874763.1:p.Leu669SerfsTer8
XM_017019275.1:c.2006_2009del	XP_016874764.1:p.Leu669SerfsTer8
XR_001748688.1:n.2143_2146del
XR_001748689.1:n.2143_2146del
NM_001145026.2:c.1340_1343del MANE Select	NP_001138498.1:p.Leu447SerfsTer8