Canonical Allele Identifier: CA2620029964
Community Standard Title: NM_001145026.2(PTPRQ):c.6453+10_6453+12del
Gene: PTPRQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80669474_80669476del , CM000674.2:g.80669474_80669476del GRCh38
NC_000012.11:g.81063253_81063255del , CM000674.1:g.81063253_81063255del GRCh37
NC_000012.10:g.79587384_79587386del NCBI36
NG_034052.1:g.230129_230131del

Transcript Alleles

HGVS Amino-acid Change
NM_001145026.2:c.6453+10_6453+12del MANE Select NP_001138498.1:n.6453+10_6453+12del
ENST00000644991.3:c.6453+10_6453+12del MANE Select ENSP00000495607.1:n.6453+10_6453+12del
NM_001145026.1:c.6453+10_6453+12del NP_001138498.1:n.6453+10_6453+12del
ENST00000614701.4:c.6453+10_6453+12del ENSP00000482885.1:n.6453+10_6453+12del
ENST00000616559.4:c.6552+10_6552+12del ENSP00000483259.1:n.6552+10_6552+12del
XM_011538290.1:c.6519+10_6519+12del XP_011536592.1:n.6519+10_6519+12del
XM_017019273.1:c.7164+10_7164+12del XP_016874762.1:n.7164+10_7164+12del
XM_017019274.1:c.7119+10_7119+12del XP_016874763.1:n.7119+10_7119+12del
XR_001749222.1:n.120+37640_120+37642del
XR_945142.1:n.111-22721_111-22719del