Canonical Allele Identifier: CA692393732

Gene: PTPRQ

Linked Data

• dbSNP Id: rs1268425082
• gnomAD v3: 12-80484619-AT-A
• gnomAD v4: 12-80484619-AT-A
• MyVariant Identifiers: chr12:g.80878399del (hg19) ; chr12:g.80484620del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484622del , CM000674.2:g.80484622del	GRCh38
NC_000012.11:g.80878401del , CM000674.1:g.80878401del	GRCh37
NC_000012.10:g.79402532del	NCBI36
NG_034052.1:g.45277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.1359+17del MANE Select	ENSP00000495607.1:n.1359+17del
ENST00000614701.4:c.1359+17del	ENSP00000482885.1:n.1359+17del
ENST00000616559.4:c.1485+17del	ENSP00000483259.1:n.1485+17del
NM_001145026.1:c.1359+17del	NP_001138498.1:n.1359+17del
XM_011538290.1:c.1359+17del	XP_011536592.1:n.1359+17del
XM_017019273.1:c.2025+17del	XP_016874762.1:n.2025+17del
XM_017019274.1:c.2025+17del	XP_016874763.1:n.2025+17del
XM_017019275.1:c.2025+17del	XP_016874764.1:n.2025+17del
XR_001748688.1:n.2162+17del
XR_001748689.1:n.2162+17del
NM_001145026.2:c.1359+17del MANE Select	NP_001138498.1:n.1359+17del