Canonical Allele Identifier: CA2575236169
Gene: PTPRQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80484494_80484504del , CM000674.2:g.80484494_80484504del GRCh38
NC_000012.11:g.80878273_80878283del , CM000674.1:g.80878273_80878283del GRCh37
NC_000012.10:g.79402404_79402414del NCBI36
NG_034052.1:g.45149_45159del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644991.3:c.1248_1258del MANE Select ENSP00000495607.1:p.Trp417ThrfsTer8
ENST00000614701.4:c.1248_1258del ENSP00000482885.1:p.Trp417ThrfsTer8
ENST00000616559.4:c.1374_1384del ENSP00000483259.1:p.Trp459ThrfsTer8
NM_001145026.1:c.1248_1258del NP_001138498.1:p.Trp417ThrfsTer8
XM_011538290.1:c.1248_1258del XP_011536592.1:p.Trp417ThrfsTer8
XM_017019273.1:c.1914_1924del XP_016874762.1:p.Trp639ThrfsTer8
XM_017019274.1:c.1914_1924del XP_016874763.1:p.Trp639ThrfsTer8
XM_017019275.1:c.1914_1924del XP_016874764.1:p.Trp639ThrfsTer8
XR_001748688.1:n.2051_2061del
XR_001748689.1:n.2051_2061del
NM_001145026.2:c.1248_1258del MANE Select NP_001138498.1:p.Trp417ThrfsTer8