Canonical Allele Identifier: CA2621406343

Gene: P2RX4

Linked Data

• gnomAD v4: 12-121222191-AGGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121222194_121222197del , CM000674.2:g.121222194_121222197del	GRCh38
NC_000012.11:g.121659997_121660000del , CM000674.1:g.121659997_121660000del	GRCh37
NC_000012.10:g.120144380_120144383del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337233.9:c.427+28_427+31del MANE Select	ENSP00000336607.4:n.427+28_427+31del
ENST00000314442.7:n.4561+28_4561+31del
ENST00000337233.8:c.427+28_427+31del	ENSP00000336607.4:n.427+28_427+31del
ENST00000359949.11:c.475+28_475+31del	ENSP00000353032.7:n.475+28_475+31del
ENST00000499638.6:n.491_494del
ENST00000538417.2:c.357+28_357+31del
ENST00000538701.5:c.135-6339_135-6336del	ENSP00000444033.1:n.135-6339_135-6336del
ENST00000540930.5:n.463+28_463+31del
ENST00000541187.5:n.273+28_273+31del
ENST00000542067.5:c.427+28_427+31del	ENSP00000438329.1:n.427+28_427+31del
ENST00000543171.5:c.427+28_427+31del	ENSP00000438131.2:n.427+28_427+31del
ENST00000543318.5:c.427+28_427+31del	ENSP00000444274.1:n.427+28_427+31del
ENST00000543430.5:n.475+28_475+31del
ENST00000543984.5:c.*120+28_*120+31del	ENSP00000439386.1:n.*120+28_*120+31del
NM_001256796.1:c.475+28_475+31del	NP_001243725.1:n.475+28_475+31del
NM_001261397.1:c.427+28_427+31del	NP_001248326.1:n.427+28_427+31del
NM_001261398.1:c.427+28_427+31del	NP_001248327.1:n.427+28_427+31del
NM_002560.2:c.427+28_427+31del	NP_002551.2:n.427+28_427+31del
NR_046372.1:n.731+28_731+31del
NR_046373.1:n.583+28_583+31del
XM_011538416.1:c.135-6339_135-6336del	XP_011536718.1:n.135-6339_135-6336del
XM_011538417.1:c.475+28_475+31del	XP_011536719.1:n.475+28_475+31del
XR_944559.1:n.535+28_535+31del
XM_011538416.2:c.135-6339_135-6336del	XP_011536718.1:n.135-6339_135-6336del
XR_001748726.2:n.481+28_481+31del
XR_001748727.1:n.544+28_544+31del
XR_001748728.1:n.544+28_544+31del
XR_001748729.2:n.481+28_481+31del
XR_944559.2:n.534+28_534+31del
NM_001256796.2:c.475+28_475+31del	NP_001243725.1:n.475+28_475+31del
NM_001261397.2:c.427+28_427+31del	NP_001248326.1:n.427+28_427+31del
NM_001261398.2:c.427+28_427+31del	NP_001248327.1:n.427+28_427+31del
NM_002560.3:c.427+28_427+31del MANE Select	NP_002551.2:n.427+28_427+31del
NR_046372.2:n.463+28_463+31del
NR_046373.2:n.315+28_315+31del