Canonical Allele Identifier: CA6702949
Gene: PTPRQ HGNC NCBI
gnomAD v2:
12:81063245 TA / T
gnomAD v3:
12:80669466 TA / T
gnomAD v4:
chr12-80669466-TA-T
Joint Max Group AF 0.03180659 (AMR)
Genomes Max Group AF 0.00140155 (EAS)
Exomes Max Group AF 0.05650735 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80669476del , CM000674.2:g.80669476del GRCh38
NC_000012.11:g.81063255del , CM000674.1:g.81063255del GRCh37
NC_000012.10:g.79587386del NCBI36
NG_034052.1:g.230131del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644991.3:c.6453+12del MANE Select ENSP00000495607.1:n.6453+12del
ENST00000614701.4:c.6453+12del ENSP00000482885.1:n.6453+12del
ENST00000616559.4:c.6552+12del ENSP00000483259.1:n.6552+12del
NM_001145026.1:c.6453+12del NP_001138498.1:n.6453+12del
XM_011538290.1:c.6519+12del XP_011536592.1:n.6519+12del
XR_945142.1:n.111-22719del
XM_017019273.1:c.7164+12del XP_016874762.1:n.7164+12del
XM_017019274.1:c.7119+12del XP_016874763.1:n.7119+12del
XR_001749222.1:n.120+37642del
NM_001145026.2:c.6453+12del MANE Select NP_001138498.1:n.6453+12del
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