Canonical Allele Identifier: CA2621399534

Gene: P2RX7

Linked Data

• gnomAD v4: 12-121177411-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121177413del , CM000674.2:g.121177413del	GRCh38
NC_000012.11:g.121615216del , CM000674.1:g.121615216del	GRCh37
NC_000012.10:g.120099599del	NCBI36
NG_011471.2:g.49539del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.1155del MANE Select	ENSP00000330696.6:p.Lys386ArgfsTer13
ENST00000261826.10:c.*608del	ENSP00000261826.6:n.*608del
ENST00000328963.9:c.1155del	ENSP00000330696.6:p.Lys386ArgfsTer13
ENST00000535250.5:c.1239del	ENSP00000442572.2:n.1239del
ENST00000535600.2:c.972del	ENSP00000442470.1:n.972del
ENST00000537312.5:c.*926del	ENSP00000438586.1:n.*926del
ENST00000538011.5:c.1294del	ENSP00000439247.1:n.1294del
ENST00000539606.5:c.1378del	ENSP00000445325.1:n.1378del
ENST00000539695.5:n.1324del
ENST00000541022.5:c.945del	ENSP00000441230.1:n.945del
ENST00000541564.5:c.1018del	ENSP00000443640.1:n.1018del
ENST00000541716.5:c.1166del	ENSP00000437729.1:n.1166del
NM_002562.5:c.1155del	NP_002553.3:p.Lys386ArgfsTer13
NR_033948.1:n.1521del
NR_033949.1:n.1437del
NR_033950.1:n.1398del
NR_033951.1:n.1382del
NR_033952.1:n.1309del
NR_033953.1:n.1222del
NR_033954.1:n.1201del
NR_033955.1:n.1161del
NR_033956.1:n.1088del
XM_011538418.1:c.888del	XP_011536720.1:p.Lys297ArgfsTer13
XM_011538419.1:c.843del	XP_011536721.1:p.Lys282ArgfsTer13
XM_011538420.1:c.288del	XP_011536722.1:p.Lys97ArgfsTer13
XR_945459.1:n.190-14995del
XR_945460.1:n.299-14995del
XM_011538419.3:c.843del	XP_011536721.1:p.Lys282ArgfsTer13
XM_011538420.3:c.288del	XP_011536722.1:p.Lys97ArgfsTer13
XM_017019364.2:c.795del	XP_016874853.1:p.Lys266ArgfsTer13
XM_017019365.2:c.795del	XP_016874854.1:p.Lys266ArgfsTer13
XM_017019366.2:c.402del	XP_016874855.1:p.Lys135ArgfsTer13
XM_017019367.2:c.402del	XP_016874856.1:p.Lys135ArgfsTer13
XR_001749352.2:n.186+26086del
XR_001749353.2:n.304-14995del
XR_001749354.2:n.186+26086del
XR_945459.3:n.187-14995del
XR_945460.3:n.299-14995del
NM_002562.6:c.1155del MANE Select	NP_002553.3:p.Lys386ArgfsTer13
NR_033948.2:n.1473del
NR_033949.2:n.1389del
NR_033950.2:n.1350del
NR_033951.2:n.1334del
NR_033952.2:n.1261del
NR_033953.2:n.1165del
NR_033954.2:n.1153del
NR_033955.2:n.1113del
NR_033956.2:n.1040del