Canonical Allele Identifier: CA692370950

Gene: PTPRQ

Linked Data

• dbSNP Id: rs1454170327
• gnomAD v3: 12-80460666-C-CT
• gnomAD v4: 12-80460666-C-CT
• MyVariant Identifiers: chr12:g.80460666_80460667insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80460672dup , CM000674.2:g.80460672dup	GRCh38
NC_000012.11:g.80849510dup , CM000674.1:g.80849510dup	GRCh37
NC_000012.10:g.79373641dup	NCBI36
NG_034052.1:g.21327dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.680dup MANE Select	ENSP00000495607.1:p.Leu227PhefsTer13
ENST00000614701.4:c.680dup	ENSP00000482885.1:p.Leu227PhefsTer13
ENST00000616559.4:c.806dup	ENSP00000483259.1:p.Leu269PhefsTer13
NM_001145026.1:c.680dup	NP_001138498.1:p.Leu227PhefsTer13
XM_011538290.1:c.680dup	XP_011536592.1:p.Leu227PhefsTer13
XM_017019273.1:c.1346dup	XP_016874762.1:p.Leu449PhefsTer13
XM_017019274.1:c.1346dup	XP_016874763.1:p.Leu449PhefsTer13
XM_017019275.1:c.1346dup	XP_016874764.1:p.Leu449PhefsTer13
XR_001748688.1:n.1483dup
XR_001748689.1:n.1483dup
NM_001145026.2:c.680dup MANE Select	NP_001138498.1:p.Leu227PhefsTer13