Canonical Allele Identifier: CA771814571

Gene: P2RX1

Linked Data

• dbSNP Id: rs1444593870
• MyVariant Identifiers: chr17:g.3817355_3817367del (hg19) ; chr17:g.3914061_3914073del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3914065_3914077del , CM000679.2:g.3914065_3914077del	GRCh38
NC_000017.10:g.3817359_3817371del , CM000679.1:g.3817359_3817371del	GRCh37
NC_000017.9:g.3764108_3764120del	NCBI36
NG_012109.1:g.7594_7606del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225538.4:c.137+2016_137+2028del MANE Select	ENSP00000225538.3:n.137+2016_137+2028del
ENST00000225538.3:c.137+2016_137+2028del	ENSP00000225538.3:n.137+2016_137+2028del
ENST00000571637.1:c.*596+1273_*596+1285del	ENSP00000460449.1:n.*596+1273_*596+1285del
ENST00000572418.1:n.364+2016_364+2028del
NM_002558.3:c.137+2016_137+2028del	NP_002549.1:n.137+2016_137+2028del
XM_006721529.1:c.137+2016_137+2028del	XP_006721592.1:n.137+2016_137+2028del
XM_011523895.1:c.173+1313_173+1325del	XP_011522197.1:n.173+1313_173+1325del
XM_011523896.1:c.173+1313_173+1325del	XP_011522198.1:n.173+1313_173+1325del
XM_011523897.1:c.137+2016_137+2028del	XP_011522199.1:n.137+2016_137+2028del
XM_011523898.1:c.173+1313_173+1325del	XP_011522200.1:n.173+1313_173+1325del
XM_011523899.1:c.173+1313_173+1325del	XP_011522201.1:n.173+1313_173+1325del
XM_011523900.1:c.173+1313_173+1325del	XP_011522202.1:n.173+1313_173+1325del
XR_934028.1:n.1082+1313_1082+1325del
XR_934029.1:n.1082+1313_1082+1325del
XR_934030.1:n.1082+1313_1082+1325del
XM_006721529.2:c.137+2016_137+2028del	XP_006721592.1:n.137+2016_137+2028del
XM_011523896.3:c.173+1313_173+1325del	XP_011522198.1:n.173+1313_173+1325del
XM_011523897.2:c.137+2016_137+2028del	XP_011522199.1:n.137+2016_137+2028del
XM_011523898.3:c.173+1313_173+1325del	XP_011522200.1:n.173+1313_173+1325del
XM_011523899.3:c.173+1313_173+1325del	XP_011522201.1:n.173+1313_173+1325del
XM_011523900.3:c.173+1313_173+1325del	XP_011522202.1:n.173+1313_173+1325del
XR_934029.3:n.1116+1313_1116+1325del
XR_934030.3:n.1116+1313_1116+1325del
NM_002558.4:c.137+2016_137+2028del MANE Select	NP_002549.1:n.137+2016_137+2028del