Canonical Allele Identifier: CA2797731871
Gene: P2RX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121177357del , CM000674.2:g.121177357del GRCh38
NC_000012.11:g.121615160del , CM000674.1:g.121615160del GRCh37
NC_000012.10:g.120099543del NCBI36
NG_011471.2:g.49483del

Transcript Alleles

HGVS Amino-acid Change
ENST00000328963.10:c.1099del MANE Select ENSP00000330696.6:p.Ile367PhefsTer?
ENST00000261826.10:c.*552del ENSP00000261826.6:n.*552del
ENST00000328963.9:c.1099del ENSP00000330696.6:p.Ile367PhefsTer?
ENST00000535250.5:c.1183del ENSP00000442572.2:n.1183del
ENST00000535600.2:c.916del ENSP00000442470.1:n.916del
ENST00000537312.5:c.*870del ENSP00000438586.1:n.*870del
ENST00000538011.5:c.1238del ENSP00000439247.1:n.1238del
ENST00000539606.5:c.1322del ENSP00000445325.1:n.1322del
ENST00000539695.5:n.1268del
ENST00000541022.5:c.889del ENSP00000441230.1:n.889del
ENST00000541564.5:c.962del ENSP00000443640.1:n.962del
ENST00000541716.5:c.1110del ENSP00000437729.1:n.1110del
NM_002562.5:c.1099del NP_002553.3:p.Ile367PhefsTer?
NR_033948.1:n.1465del
NR_033949.1:n.1381del
NR_033950.1:n.1342del
NR_033951.1:n.1326del
NR_033952.1:n.1253del
NR_033953.1:n.1166del
NR_033954.1:n.1145del
NR_033955.1:n.1105del
NR_033956.1:n.1032del
XM_011538418.1:c.832del XP_011536720.1:p.Ile278PhefsTer?
XM_011538419.1:c.787del XP_011536721.1:p.Ile263PhefsTer?
XM_011538420.1:c.232del XP_011536722.1:p.Ile78PhefsTer?
XR_945459.1:n.190-14940del
XR_945460.1:n.299-14940del
XM_011538419.3:c.787del XP_011536721.1:p.Ile263PhefsTer?
XM_011538420.3:c.232del XP_011536722.1:p.Ile78PhefsTer?
XM_017019364.2:c.739del XP_016874853.1:p.Ile247PhefsTer?
XM_017019365.2:c.739del XP_016874854.1:p.Ile247PhefsTer?
XM_017019366.2:c.346del XP_016874855.1:p.Ile116PhefsTer?
XM_017019367.2:c.346del XP_016874856.1:p.Ile116PhefsTer?
XR_001749352.2:n.186+26141del
XR_001749353.2:n.304-14940del
XR_001749354.2:n.186+26141del
XR_945459.3:n.187-14940del
XR_945460.3:n.299-14940del
NM_002562.6:c.1099del MANE Select NP_002553.3:p.Ile367PhefsTer?
NR_033948.2:n.1417del
NR_033949.2:n.1333del
NR_033950.2:n.1294del
NR_033951.2:n.1278del
NR_033952.2:n.1205del
NR_033953.2:n.1109del
NR_033954.2:n.1097del
NR_033955.2:n.1057del
NR_033956.2:n.984del