Canonical Allele Identifier: CA2621406351

Gene: P2RX4

Linked Data

• gnomAD v4: 12-121222193-G-GCCACAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121222193_121222194insCCACAA , CM000674.2:g.121222193_121222194insCCACAA	GRCh38
NC_000012.11:g.121659996_121659997insCCACAA , CM000674.1:g.121659996_121659997insCCACAA	GRCh37
NC_000012.10:g.120144379_120144380insCCACAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337233.9:c.427+27_427+28insCCACAA MANE Select	ENSP00000336607.4:n.427+27_427+28insCCACAA
ENST00000314442.7:n.4561+27_4561+28insCCACAA
ENST00000337233.8:c.427+27_427+28insCCACAA	ENSP00000336607.4:n.427+27_427+28insCCACAA
ENST00000359949.11:c.475+27_475+28insCCACAA	ENSP00000353032.7:n.475+27_475+28insCCACAA
ENST00000499638.6:n.490_491insCCACAA
ENST00000538417.2:c.357+27_357+28insCCACAA
ENST00000538701.5:c.135-6340_135-6339insCCACAA	ENSP00000444033.1:n.135-6340_135-6339insCCACAA
ENST00000540930.5:n.463+27_463+28insCCACAA
ENST00000541187.5:n.273+27_273+28insCCACAA
ENST00000542067.5:c.427+27_427+28insCCACAA	ENSP00000438329.1:n.427+27_427+28insCCACAA
ENST00000543171.5:c.427+27_427+28insCCACAA	ENSP00000438131.2:n.427+27_427+28insCCACAA
ENST00000543318.5:c.427+27_427+28insCCACAA	ENSP00000444274.1:n.427+27_427+28insCCACAA
ENST00000543430.5:n.475+27_475+28insCCACAA
ENST00000543984.5:c.*120+27_*120+28insCCACAA	ENSP00000439386.1:n.*120+27_*120+28insCCACAA
NM_001256796.1:c.475+27_475+28insCCACAA	NP_001243725.1:n.475+27_475+28insCCACAA
NM_001261397.1:c.427+27_427+28insCCACAA	NP_001248326.1:n.427+27_427+28insCCACAA
NM_001261398.1:c.427+27_427+28insCCACAA	NP_001248327.1:n.427+27_427+28insCCACAA
NM_002560.2:c.427+27_427+28insCCACAA	NP_002551.2:n.427+27_427+28insCCACAA
NR_046372.1:n.731+27_731+28insCCACAA
NR_046373.1:n.583+27_583+28insCCACAA
XM_011538416.1:c.135-6340_135-6339insCCACAA	XP_011536718.1:n.135-6340_135-6339insCCACAA
XM_011538417.1:c.475+27_475+28insCCACAA	XP_011536719.1:n.475+27_475+28insCCACAA
XR_944559.1:n.535+27_535+28insCCACAA
XM_011538416.2:c.135-6340_135-6339insCCACAA	XP_011536718.1:n.135-6340_135-6339insCCACAA
XR_001748726.2:n.481+27_481+28insCCACAA
XR_001748727.1:n.544+27_544+28insCCACAA
XR_001748728.1:n.544+27_544+28insCCACAA
XR_001748729.2:n.481+27_481+28insCCACAA
XR_944559.2:n.534+27_534+28insCCACAA
NM_001256796.2:c.475+27_475+28insCCACAA	NP_001243725.1:n.475+27_475+28insCCACAA
NM_001261397.2:c.427+27_427+28insCCACAA	NP_001248326.1:n.427+27_427+28insCCACAA
NM_001261398.2:c.427+27_427+28insCCACAA	NP_001248327.1:n.427+27_427+28insCCACAA
NM_002560.3:c.427+27_427+28insCCACAA MANE Select	NP_002551.2:n.427+27_427+28insCCACAA
NR_046372.2:n.463+27_463+28insCCACAA
NR_046373.2:n.315+27_315+28insCCACAA