Canonical Allele Identifier: CA2067787213

Gene: P2RX7

Linked Data

• dbSNP Id: rs1883321723
• gnomAD v4: 12-121177326-CACTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177330_121177333del , CM000674.2:g.121177330_121177333del	GRCh38
NC_000012.11:g.121615133_121615136del , CM000674.1:g.121615133_121615136del	GRCh37
NC_000012.10:g.120099516_120099519del	NCBI36
NG_011471.2:g.49456_49459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1072_1075del MANE Select	ENSP00000330696.6:p.Tyr358ProfsTer?
ENST00000261826.10:c.*525_*528del	ENSP00000261826.6:n.*525_*528del
ENST00000328963.9:c.1072_1075del	ENSP00000330696.6:p.Tyr358ProfsTer?
ENST00000535250.5:c.1156_1159del	ENSP00000442572.2:n.1156_1159del
ENST00000535600.2:c.889_892del	ENSP00000442470.1:n.889_892del
ENST00000537312.5:c.*843_*846del	ENSP00000438586.1:n.*843_*846del
ENST00000538011.5:c.1211_1214del	ENSP00000439247.1:n.1211_1214del
ENST00000539606.5:c.1295_1298del	ENSP00000445325.1:n.1295_1298del
ENST00000539695.5:n.1241_1244del
ENST00000541022.5:c.862_865del	ENSP00000441230.1:n.862_865del
ENST00000541564.5:c.935_938del	ENSP00000443640.1:n.935_938del
ENST00000541716.5:c.1083_1086del	ENSP00000437729.1:n.1083_1086del
NM_002562.5:c.1072_1075del	NP_002553.3:p.Tyr358ProfsTer?
NR_033948.1:n.1438_1441del
NR_033949.1:n.1354_1357del
NR_033950.1:n.1315_1318del
NR_033951.1:n.1299_1302del
NR_033952.1:n.1226_1229del
NR_033953.1:n.1139_1142del
NR_033954.1:n.1118_1121del
NR_033955.1:n.1078_1081del
NR_033956.1:n.1005_1008del
XM_011538418.1:c.805_808del	XP_011536720.1:p.Tyr269ProfsTer?
XM_011538419.1:c.760_763del	XP_011536721.1:p.Tyr254ProfsTer?
XM_011538420.1:c.205_208del	XP_011536722.1:p.Tyr69ProfsTer?
XR_945459.1:n.190-14913_190-14910del
XR_945460.1:n.299-14913_299-14910del
XM_011538419.3:c.760_763del	XP_011536721.1:p.Tyr254ProfsTer?
XM_011538420.3:c.205_208del	XP_011536722.1:p.Tyr69ProfsTer?
XM_017019364.2:c.712_715del	XP_016874853.1:p.Tyr238ProfsTer?
XM_017019365.2:c.712_715del	XP_016874854.1:p.Tyr238ProfsTer?
XM_017019366.2:c.319_322del	XP_016874855.1:p.Tyr107ProfsTer?
XM_017019367.2:c.319_322del	XP_016874856.1:p.Tyr107ProfsTer?
XR_001749352.2:n.186+26168_186+26171del
XR_001749353.2:n.304-14913_304-14910del
XR_001749354.2:n.186+26168_186+26171del
XR_945459.3:n.187-14913_187-14910del
XR_945460.3:n.299-14913_299-14910del
NM_002562.6:c.1072_1075del MANE Select	NP_002553.3:p.Tyr358ProfsTer?
NR_033948.2:n.1390_1393del
NR_033949.2:n.1306_1309del
NR_033950.2:n.1267_1270del
NR_033951.2:n.1251_1254del
NR_033952.2:n.1178_1181del
NR_033953.2:n.1082_1085del
NR_033954.2:n.1070_1073del
NR_033955.2:n.1030_1033del
NR_033956.2:n.957_960del