Canonical Allele Identifier: CA771814611

Gene: P2RX1

Linked Data

• dbSNP Id: rs1398754086
• gnomAD v3: 17-3914318-TAGAC-T
• gnomAD v4: 17-3914318-TAGAC-T
• MyVariant Identifiers: chr17:g.3817613_3817616del (hg19) ; chr17:g.3914319_3914322del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3914321_3914324del , CM000679.2:g.3914321_3914324del	GRCh38
NC_000017.10:g.3817615_3817618del , CM000679.1:g.3817615_3817618del	GRCh37
NC_000017.9:g.3764364_3764367del	NCBI36
NG_012109.1:g.7345_7348del

Transcript Alleles

HGVS	Amino-acid change
ENST00000225538.4:c.137+1767_137+1770del MANE Select	ENSP00000225538.3:n.137+1767_137+1770del
ENST00000225538.3:c.137+1767_137+1770del	ENSP00000225538.3:n.137+1767_137+1770del
ENST00000571637.1:c.*596+1024_*596+1027del	ENSP00000460449.1:n.*596+1024_*596+1027de...
ENST00000572418.1:n.364+1767_364+1770del
NM_002558.3:c.137+1767_137+1770del	NP_002549.1:n.137+1767_137+1770del
XM_006721529.1:c.137+1767_137+1770del	XP_006721592.1:n.137+1767_137+1770del
XM_011523895.1:c.173+1064_173+1067del	XP_011522197.1:n.173+1064_173+1067del
XM_011523896.1:c.173+1064_173+1067del	XP_011522198.1:n.173+1064_173+1067del
XM_011523897.1:c.137+1767_137+1770del	XP_011522199.1:n.137+1767_137+1770del
XM_011523898.1:c.173+1064_173+1067del	XP_011522200.1:n.173+1064_173+1067del
XM_011523899.1:c.173+1064_173+1067del	XP_011522201.1:n.173+1064_173+1067del
XM_011523900.1:c.173+1064_173+1067del	XP_011522202.1:n.173+1064_173+1067del
XR_934028.1:n.1082+1064_1082+1067del
XR_934029.1:n.1082+1064_1082+1067del
XR_934030.1:n.1082+1064_1082+1067del
XM_006721529.2:c.137+1767_137+1770del	XP_006721592.1:n.137+1767_137+1770del
XM_011523896.3:c.173+1064_173+1067del	XP_011522198.1:n.173+1064_173+1067del
XM_011523897.2:c.137+1767_137+1770del	XP_011522199.1:n.137+1767_137+1770del
XM_011523898.3:c.173+1064_173+1067del	XP_011522200.1:n.173+1064_173+1067del
XM_011523899.3:c.173+1064_173+1067del	XP_011522201.1:n.173+1064_173+1067del
XM_011523900.3:c.173+1064_173+1067del	XP_011522202.1:n.173+1064_173+1067del
XR_934029.3:n.1116+1064_1116+1067del
XR_934030.3:n.1116+1064_1116+1067del
NM_002558.4:c.137+1767_137+1770del MANE Select	NP_002549.1:n.137+1767_137+1770del