Canonical Allele Identifier: CA2067787218
Gene: P2RX7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.121177328_121177329delinsCT , CM000674.2:g.121177328_121177329delinsCT GRCh38
NC_000012.11:g.121615131_121615132delinsCT , CM000674.1:g.121615131_121615132delinsCT GRCh37
NC_000012.10:g.120099514_120099515delinsCT NCBI36
NG_011471.2:g.49454_49455delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000328963.10:c.1070_1071delinsCT MANE Select ENSP00000330696.6:p.Thr357=
ENST00000261826.10:c.*523_*524delinsCT ENSP00000261826.6:n.*523_*524delinsCT
ENST00000328963.9:c.1070_1071delinsCT ENSP00000330696.6:p.Thr357=
ENST00000535250.5:c.1154_1155delinsCT ENSP00000442572.2:n.1154_1155delinsCT
ENST00000535600.2:c.887_888delinsCT ENSP00000442470.1:n.887_888delinsCT
ENST00000537312.5:c.*841_*842delinsCT ENSP00000438586.1:n.*841_*842delinsCT
ENST00000538011.5:c.1209_1210delinsCT ENSP00000439247.1:n.1209_1210delinsCT
ENST00000539606.5:c.1293_1294delinsCT ENSP00000445325.1:n.1293_1294delinsCT
ENST00000539695.5:n.1239_1240delinsCT
ENST00000541022.5:c.860_861delinsCT ENSP00000441230.1:n.860_861delinsCT
ENST00000541564.5:c.933_934delinsCT ENSP00000443640.1:n.933_934delinsCT
ENST00000541716.5:c.1081_1082delinsCT ENSP00000437729.1:n.1081_1082delinsCT
NM_002562.5:c.1070_1071delinsCT NP_002553.3:p.Thr357=
NR_033948.1:n.1436_1437delinsCT
NR_033949.1:n.1352_1353delinsCT
NR_033950.1:n.1313_1314delinsCT
NR_033951.1:n.1297_1298delinsCT
NR_033952.1:n.1224_1225delinsCT
NR_033953.1:n.1137_1138delinsCT
NR_033954.1:n.1116_1117delinsCT
NR_033955.1:n.1076_1077delinsCT
NR_033956.1:n.1003_1004delinsCT
XM_011538418.1:c.803_804delinsCT XP_011536720.1:p.Thr268=
XM_011538419.1:c.758_759delinsCT XP_011536721.1:p.Thr253=
XM_011538420.1:c.203_204delinsCT XP_011536722.1:p.Thr68=
XR_945459.1:n.190-14912_190-14911delinsAG
XR_945460.1:n.299-14912_299-14911delinsAG
XM_011538419.3:c.758_759delinsCT XP_011536721.1:p.Thr253=
XM_011538420.3:c.203_204delinsCT XP_011536722.1:p.Thr68=
XM_017019364.2:c.710_711delinsCT XP_016874853.1:p.Thr237=
XM_017019365.2:c.710_711delinsCT XP_016874854.1:p.Thr237=
XM_017019366.2:c.317_318delinsCT XP_016874855.1:p.Thr106=
XM_017019367.2:c.317_318delinsCT XP_016874856.1:p.Thr106=
XR_001749352.2:n.186+26169_186+26170delinsAG
XR_001749353.2:n.304-14912_304-14911delinsAG
XR_001749354.2:n.186+26169_186+26170delinsAG
XR_945459.3:n.187-14912_187-14911delinsAG
XR_945460.3:n.299-14912_299-14911delinsAG
NM_002562.6:c.1070_1071delinsCT MANE Select NP_002553.3:p.Thr357=
NR_033948.2:n.1388_1389delinsCT
NR_033949.2:n.1304_1305delinsCT
NR_033950.2:n.1265_1266delinsCT
NR_033951.2:n.1249_1250delinsCT
NR_033952.2:n.1176_1177delinsCT
NR_033953.2:n.1080_1081delinsCT
NR_033954.2:n.1068_1069delinsCT
NR_033955.2:n.1028_1029delinsCT
NR_033956.2:n.955_956delinsCT