Canonical Allele Identifier: CA2741294830
Gene: P2RX4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121222151_121222154del , CM000674.2:g.121222151_121222154del GRCh38
NC_000012.11:g.121659954_121659957del , CM000674.1:g.121659954_121659957del GRCh37
NC_000012.10:g.120144337_120144340del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000337233.9:c.412_415del MANE Select ENSP00000336607.4:p.Gly138ProfsTer12
ENST00000314442.7:n.4546_4549del
ENST00000337233.8:c.412_415del ENSP00000336607.4:p.Gly138ProfsTer12
ENST00000359949.11:c.460_463del ENSP00000353032.7:p.Gly154ProfsTer12
ENST00000499638.6:n.448_451del
ENST00000538417.2:c.342_345del
ENST00000538701.5:c.135-6382_135-6379del ENSP00000444033.1:n.135-6382_135-6379del
ENST00000540930.5:n.448_451del
ENST00000541187.5:n.258_261del
ENST00000542067.5:c.412_415del ENSP00000438329.1:p.Gly138ProfsTer14
ENST00000543171.5:c.412_415del ENSP00000438131.2:p.Gly138ProfsTer12
ENST00000543318.5:c.412_415del ENSP00000444274.1:p.Gly138ProfsTer?
ENST00000543430.5:n.460_463del
ENST00000543984.5:c.*105_*108del ENSP00000439386.1:n.*105_*108del
NM_001256796.1:c.460_463del NP_001243725.1:p.Gly154ProfsTer12
NM_001261397.1:c.412_415del NP_001248326.1:p.Gly138ProfsTer14
NM_001261398.1:c.412_415del NP_001248327.1:p.Gly138ProfsTer12
NM_002560.2:c.412_415del NP_002551.2:p.Gly138ProfsTer12
NR_046372.1:n.716_719del
NR_046373.1:n.568_571del
XM_011538416.1:c.135-6382_135-6379del XP_011536718.1:n.135-6382_135-6379del
XM_011538417.1:c.460_463del XP_011536719.1:p.Gly154ProfsTer12
XR_944559.1:n.520_523del
XM_011538416.2:c.135-6382_135-6379del XP_011536718.1:n.135-6382_135-6379del
XR_001748726.2:n.466_469del
XR_001748727.1:n.529_532del
XR_001748728.1:n.529_532del
XR_001748729.2:n.466_469del
XR_944559.2:n.519_522del
NM_001256796.2:c.460_463del NP_001243725.1:p.Gly154ProfsTer12
NM_001261397.2:c.412_415del NP_001248326.1:p.Gly138ProfsTer14
NM_001261398.2:c.412_415del NP_001248327.1:p.Gly138ProfsTer12
NM_002560.3:c.412_415del MANE Select NP_002551.2:p.Gly138ProfsTer12
NR_046372.2:n.448_451del
NR_046373.2:n.300_303del