Canonical Allele Identifier: CA2621399481
Gene: P2RX7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121177374_121177376del , CM000674.2:g.121177374_121177376del GRCh38
NC_000012.11:g.121615177_121615179del , CM000674.1:g.121615177_121615179del GRCh37
NC_000012.10:g.120099560_120099562del NCBI36
NG_011471.2:g.49500_49502del

Transcript Alleles

HGVS Amino-acid Change
ENST00000328963.10:c.1116_1118del MANE Select ENSP00000330696.6:p.Lys372_Cys373delinsAsn
ENST00000261826.10:c.*569_*571del ENSP00000261826.6:n.*569_*571del
ENST00000328963.9:c.1116_1118del ENSP00000330696.6:p.Lys372_Cys373delinsAsn
ENST00000535250.5:c.1200_1202del ENSP00000442572.2:n.1200_1202del
ENST00000535600.2:c.933_935del ENSP00000442470.1:n.933_935del
ENST00000537312.5:c.*887_*889del ENSP00000438586.1:n.*887_*889del
ENST00000538011.5:c.1255_1257del ENSP00000439247.1:n.1255_1257del
ENST00000539606.5:c.1339_1341del ENSP00000445325.1:n.1339_1341del
ENST00000539695.5:n.1285_1287del
ENST00000541022.5:c.906_908del ENSP00000441230.1:n.906_908del
ENST00000541564.5:c.979_981del ENSP00000443640.1:n.979_981del
ENST00000541716.5:c.1127_1129del ENSP00000437729.1:n.1127_1129del
NM_002562.5:c.1116_1118del NP_002553.3:p.Lys372_Cys373delinsAsn
NR_033948.1:n.1482_1484del
NR_033949.1:n.1398_1400del
NR_033950.1:n.1359_1361del
NR_033951.1:n.1343_1345del
NR_033952.1:n.1270_1272del
NR_033953.1:n.1183_1185del
NR_033954.1:n.1162_1164del
NR_033955.1:n.1122_1124del
NR_033956.1:n.1049_1051del
XM_011538418.1:c.849_851del XP_011536720.1:p.Lys283_Cys284delinsAsn
XM_011538419.1:c.804_806del XP_011536721.1:p.Lys268_Cys269delinsAsn
XM_011538420.1:c.249_251del XP_011536722.1:p.Lys83_Cys84delinsAsn
XR_945459.1:n.190-14959_190-14957del
XR_945460.1:n.299-14959_299-14957del
XM_011538419.3:c.804_806del XP_011536721.1:p.Lys268_Cys269delinsAsn
XM_011538420.3:c.249_251del XP_011536722.1:p.Lys83_Cys84delinsAsn
XM_017019364.2:c.756_758del XP_016874853.1:p.Lys252_Cys253delinsAsn
XM_017019365.2:c.756_758del XP_016874854.1:p.Lys252_Cys253delinsAsn
XM_017019366.2:c.363_365del XP_016874855.1:p.Lys121_Cys122delinsAsn
XM_017019367.2:c.363_365del XP_016874856.1:p.Lys121_Cys122delinsAsn
XR_001749352.2:n.186+26122_186+26124del
XR_001749353.2:n.304-14959_304-14957del
XR_001749354.2:n.186+26122_186+26124del
XR_945459.3:n.187-14959_187-14957del
XR_945460.3:n.299-14959_299-14957del
NM_002562.6:c.1116_1118del MANE Select NP_002553.3:p.Lys372_Cys373delinsAsn
NR_033948.2:n.1434_1436del
NR_033949.2:n.1350_1352del
NR_033950.2:n.1311_1313del
NR_033951.2:n.1295_1297del
NR_033952.2:n.1222_1224del
NR_033953.2:n.1126_1128del
NR_033954.2:n.1114_1116del
NR_033955.2:n.1074_1076del
NR_033956.2:n.1001_1003del