Canonical Allele Identifier: CA2621399504
Gene: P2RX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121177380_121177383del , CM000674.2:g.121177380_121177383del GRCh38
NC_000012.11:g.121615183_121615186del , CM000674.1:g.121615183_121615186del GRCh37
NC_000012.10:g.120099566_120099569del NCBI36
NG_011471.2:g.49506_49509del

Transcript Alleles

HGVS Amino-acid Change
ENST00000328963.10:c.1122_1125del MANE Select ENSP00000330696.6:p.Gln375ProfsTer23
ENST00000261826.10:c.*575_*578del ENSP00000261826.6:n.*575_*578del
ENST00000328963.9:c.1122_1125del ENSP00000330696.6:p.Gln375ProfsTer23
ENST00000535250.5:c.1206_1209del ENSP00000442572.2:n.1206_1209del
ENST00000535600.2:c.939_942del ENSP00000442470.1:n.939_942del
ENST00000537312.5:c.*893_*896del ENSP00000438586.1:n.*893_*896del
ENST00000538011.5:c.1261_1264del ENSP00000439247.1:n.1261_1264del
ENST00000539606.5:c.1345_1348del ENSP00000445325.1:n.1345_1348del
ENST00000539695.5:n.1291_1294del
ENST00000541022.5:c.912_915del ENSP00000441230.1:n.912_915del
ENST00000541564.5:c.985_988del ENSP00000443640.1:n.985_988del
ENST00000541716.5:c.1133_1136del ENSP00000437729.1:n.1133_1136del
NM_002562.5:c.1122_1125del NP_002553.3:p.Gln375ProfsTer23
NR_033948.1:n.1488_1491del
NR_033949.1:n.1404_1407del
NR_033950.1:n.1365_1368del
NR_033951.1:n.1349_1352del
NR_033952.1:n.1276_1279del
NR_033953.1:n.1189_1192del
NR_033954.1:n.1168_1171del
NR_033955.1:n.1128_1131del
NR_033956.1:n.1055_1058del
XM_011538418.1:c.855_858del XP_011536720.1:p.Gln286ProfsTer23
XM_011538419.1:c.810_813del XP_011536721.1:p.Gln271ProfsTer23
XM_011538420.1:c.255_258del XP_011536722.1:p.Gln86ProfsTer23
XR_945459.1:n.190-14965_190-14962del
XR_945460.1:n.299-14965_299-14962del
XM_011538419.3:c.810_813del XP_011536721.1:p.Gln271ProfsTer23
XM_011538420.3:c.255_258del XP_011536722.1:p.Gln86ProfsTer23
XM_017019364.2:c.762_765del XP_016874853.1:p.Gln255ProfsTer23
XM_017019365.2:c.762_765del XP_016874854.1:p.Gln255ProfsTer23
XM_017019366.2:c.369_372del XP_016874855.1:p.Gln124ProfsTer23
XM_017019367.2:c.369_372del XP_016874856.1:p.Gln124ProfsTer23
XR_001749352.2:n.186+26116_186+26119del
XR_001749353.2:n.304-14965_304-14962del
XR_001749354.2:n.186+26116_186+26119del
XR_945459.3:n.187-14965_187-14962del
XR_945460.3:n.299-14965_299-14962del
NM_002562.6:c.1122_1125del MANE Select NP_002553.3:p.Gln375ProfsTer23
NR_033948.2:n.1440_1443del
NR_033949.2:n.1356_1359del
NR_033950.2:n.1317_1320del
NR_033951.2:n.1301_1304del
NR_033952.2:n.1228_1231del
NR_033953.2:n.1132_1135del
NR_033954.2:n.1120_1123del
NR_033955.2:n.1080_1083del
NR_033956.2:n.1007_1010del