Canonical Allele Identifier: CA240247926

Gene: PTPRQ

Linked Data

• dbSNP Id: rs768790872
• gnomAD v2: 12-80878392-A-AT
• gnomAD v3: 12-80484613-A-AT
• gnomAD v4: 12-80484613-A-AT
• MyVariant Identifiers: chr12:g.80878392_80878393insT (hg19) ; chr12:g.80484613_80484614insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484618dup , CM000674.2:g.80484618dup	GRCh38
NC_000012.11:g.80878397dup , CM000674.1:g.80878397dup	GRCh37
NC_000012.10:g.79402528dup	NCBI36
NG_034052.1:g.45273dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.1359+13dup MANE Select	ENSP00000495607.1:n.1359+13dup
ENST00000614701.4:c.1359+13dup	ENSP00000482885.1:n.1359+13dup
ENST00000616559.4:c.1485+13dup	ENSP00000483259.1:n.1485+13dup
NM_001145026.1:c.1359+13dup	NP_001138498.1:n.1359+13dup
XM_011538290.1:c.1359+13dup	XP_011536592.1:n.1359+13dup
XM_017019273.1:c.2025+13dup	XP_016874762.1:n.2025+13dup
XM_017019274.1:c.2025+13dup	XP_016874763.1:n.2025+13dup
XM_017019275.1:c.2025+13dup	XP_016874764.1:n.2025+13dup
XR_001748688.1:n.2162+13dup
XR_001748689.1:n.2162+13dup
NM_001145026.2:c.1359+13dup MANE Select	NP_001138498.1:n.1359+13dup