Canonical Allele Identifier: CA2621399527

Gene: P2RX7

Linked Data

• gnomAD v4: 12-121177393-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177394del , CM000674.2:g.121177394del	GRCh38
NC_000012.11:g.121615197del , CM000674.1:g.121615197del	GRCh37
NC_000012.10:g.120099580del	NCBI36
NG_011471.2:g.49520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1136del MANE Select	ENSP00000330696.6:p.Val379AlafsTer20
ENST00000261826.10:c.*589del	ENSP00000261826.6:n.*589del
ENST00000328963.9:c.1136del	ENSP00000330696.6:p.Val379AlafsTer20
ENST00000535250.5:c.1220del	ENSP00000442572.2:n.1220del
ENST00000535600.2:c.953del	ENSP00000442470.1:n.953del
ENST00000537312.5:c.*907del	ENSP00000438586.1:n.*907del
ENST00000538011.5:c.1275del	ENSP00000439247.1:n.1275del
ENST00000539606.5:c.1359del	ENSP00000445325.1:n.1359del
ENST00000539695.5:n.1305del
ENST00000541022.5:c.926del	ENSP00000441230.1:n.926del
ENST00000541564.5:c.999del	ENSP00000443640.1:n.999del
ENST00000541716.5:c.1147del	ENSP00000437729.1:n.1147del
NM_002562.5:c.1136del	NP_002553.3:p.Val379AlafsTer20
NR_033948.1:n.1502del
NR_033949.1:n.1418del
NR_033950.1:n.1379del
NR_033951.1:n.1363del
NR_033952.1:n.1290del
NR_033953.1:n.1203del
NR_033954.1:n.1182del
NR_033955.1:n.1142del
NR_033956.1:n.1069del
XM_011538418.1:c.869del	XP_011536720.1:p.Val290AlafsTer20
XM_011538419.1:c.824del	XP_011536721.1:p.Val275AlafsTer20
XM_011538420.1:c.269del	XP_011536722.1:p.Val90AlafsTer20
XR_945459.1:n.190-14977del
XR_945460.1:n.299-14977del
XM_011538419.3:c.824del	XP_011536721.1:p.Val275AlafsTer20
XM_011538420.3:c.269del	XP_011536722.1:p.Val90AlafsTer20
XM_017019364.2:c.776del	XP_016874853.1:p.Val259AlafsTer20
XM_017019365.2:c.776del	XP_016874854.1:p.Val259AlafsTer20
XM_017019366.2:c.383del	XP_016874855.1:p.Val128AlafsTer20
XM_017019367.2:c.383del	XP_016874856.1:p.Val128AlafsTer20
XR_001749352.2:n.186+26104del
XR_001749353.2:n.304-14977del
XR_001749354.2:n.186+26104del
XR_945459.3:n.187-14977del
XR_945460.3:n.299-14977del
NM_002562.6:c.1136del MANE Select	NP_002553.3:p.Val379AlafsTer20
NR_033948.2:n.1454del
NR_033949.2:n.1370del
NR_033950.2:n.1331del
NR_033951.2:n.1315del
NR_033952.2:n.1242del
NR_033953.2:n.1146del
NR_033954.2:n.1134del
NR_033955.2:n.1094del
NR_033956.2:n.1021del