Canonical Allele Identifier: CA2621395842

Gene: P2RX7

Linked Data

• gnomAD v4: 12-121132985-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121132986dup , CM000674.2:g.121132986dup	GRCh38
NC_000012.11:g.121570789dup , CM000674.1:g.121570789dup	GRCh37
NC_000012.10:g.120055172dup	NCBI36
NG_011471.2:g.5112dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328963.10:c.16dup MANE Select	ENSP00000330696.6:p.Ser6LysfsTer4
ENST00000261826.10:c.16dup	ENSP00000261826.6:p.Ser6LysfsTer4
ENST00000328963.9:c.16dup	ENSP00000330696.6:p.Ser6LysfsTer4
ENST00000535250.5:c.16dup	ENSP00000442572.2:p.Ser6LysfsTer4
ENST00000535600.2:c.16dup	ENSP00000442470.1:p.Ser6LysfsTer4
ENST00000535928.5:c.16dup	ENSP00000439961.1:p.Ser6LysfsTer4
ENST00000537312.5:c.16dup	ENSP00000438586.1:p.Ser6LysfsTer4
ENST00000538011.5:c.16dup	ENSP00000439247.1:p.Ser6LysfsTer4
ENST00000539606.5:c.16dup	ENSP00000445325.1:p.Ser6LysfsTer4
ENST00000539695.5:n.85dup
ENST00000541022.5:c.16dup	ENSP00000441230.1:p.Ser6LysfsTer4
ENST00000541564.5:c.16dup	ENSP00000443640.1:p.Ser6LysfsTer4
ENST00000541716.5:c.16dup	ENSP00000437729.1:p.Ser6LysfsTer4
ENST00000545434.5:c.16dup	ENSP00000445564.1:p.Ser6LysfsTer4
NM_002562.5:c.16dup	NP_002553.3:p.Ser6LysfsTer4
NR_033948.1:n.159dup
NR_033949.1:n.159dup
NR_033950.1:n.159dup
NR_033951.1:n.159dup
NR_033952.1:n.159dup
NR_033953.1:n.168dup
NR_033954.1:n.159dup
NR_033955.1:n.159dup
NR_033956.1:n.159dup
XM_011538418.1:c.16dup	XP_011536720.1:p.Ser6LysfsTer4
XM_011538419.1:c.-128dup	XP_011536721.1:n.-128dup
XM_011538419.3:c.-128dup	XP_011536721.1:n.-128dup
XM_017019364.2:c.-498dup	XP_016874853.1:n.-498dup
XM_017019365.2:c.-329dup	XP_016874854.1:n.-329dup
XM_017019366.2:c.-665dup	XP_016874855.1:n.-665dup
XM_017019367.2:c.-496dup	XP_016874856.1:n.-496dup
XR_001749352.2:n.187-6145dup
XR_001749354.2:n.187-6145dup
NM_002562.6:c.16dup MANE Select	NP_002553.3:p.Ser6LysfsTer4
NR_033948.2:n.111dup
NR_033949.2:n.111dup
NR_033950.2:n.111dup
NR_033951.2:n.111dup
NR_033952.2:n.111dup
NR_033953.2:n.111dup
NR_033954.2:n.111dup
NR_033955.2:n.111dup
NR_033956.2:n.111dup