Canonical Allele Identifier: CA692393816

Gene: PTPRQ

Linked Data

• dbSNP Id: rs1167681581
• gnomAD v3: 12-80484718-CAAAGT-C
• gnomAD v4: 12-80484718-CAAAGT-C
• MyVariant Identifiers: chr12:g.80878498_80878502del (hg19) ; chr12:g.80484719_80484723del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484727_80484731del , CM000674.2:g.80484727_80484731del	GRCh38
NC_000012.11:g.80878506_80878510del , CM000674.1:g.80878506_80878510del	GRCh37
NC_000012.10:g.79402637_79402641del	NCBI36
NG_034052.1:g.45382_45386del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.1359+122_1359+126del MANE Select	ENSP00000495607.1:n.1359+122_1359+126del
ENST00000614701.4:c.1359+122_1359+126del	ENSP00000482885.1:n.1359+122_1359+126del
ENST00000616559.4:c.1485+122_1485+126del	ENSP00000483259.1:n.1485+122_1485+126del
NM_001145026.1:c.1359+122_1359+126del	NP_001138498.1:n.1359+122_1359+126del
XM_011538290.1:c.1359+122_1359+126del	XP_011536592.1:n.1359+122_1359+126del
XM_017019273.1:c.2025+122_2025+126del	XP_016874762.1:n.2025+122_2025+126del
XM_017019274.1:c.2025+122_2025+126del	XP_016874763.1:n.2025+122_2025+126del
XM_017019275.1:c.2025+122_2025+126del	XP_016874764.1:n.2025+122_2025+126del
XR_001748688.1:n.2162+122_2162+126del
XR_001748689.1:n.2162+122_2162+126del
NM_001145026.2:c.1359+122_1359+126del MANE Select	NP_001138498.1:n.1359+122_1359+126del