Canonical Allele Identifier: CA2741271118
Gene: PTPRQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80484490_80484491del , CM000674.2:g.80484490_80484491del GRCh38
NC_000012.11:g.80878269_80878270del , CM000674.1:g.80878269_80878270del GRCh37
NC_000012.10:g.79402400_79402401del NCBI36
NG_034052.1:g.45145_45146del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644991.3:c.1244_1245del MANE Select ENSP00000495607.1:p.Ile415AsnfsTer13
ENST00000614701.4:c.1244_1245del ENSP00000482885.1:p.Ile415AsnfsTer13
ENST00000616559.4:c.1370_1371del ENSP00000483259.1:p.Ile457AsnfsTer13
NM_001145026.1:c.1244_1245del NP_001138498.1:p.Ile415AsnfsTer13
XM_011538290.1:c.1244_1245del XP_011536592.1:p.Ile415AsnfsTer13
XM_017019273.1:c.1910_1911del XP_016874762.1:p.Ile637AsnfsTer13
XM_017019274.1:c.1910_1911del XP_016874763.1:p.Ile637AsnfsTer13
XM_017019275.1:c.1910_1911del XP_016874764.1:p.Ile637AsnfsTer13
XR_001748688.1:n.2047_2048del
XR_001748689.1:n.2047_2048del
NM_001145026.2:c.1244_1245del MANE Select NP_001138498.1:p.Ile415AsnfsTer13