Canonical Allele Identifier: CA2216294547

Gene: PRRT2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29814424_29814428delinsGAGTC , CM000678.2:g.29814424_29814428delinsGAGTC	GRCh38
NC_000016.9:g.29825745_29825749delinsGAGTC , CM000678.1:g.29825745_29825749delinsGAGTC	GRCh37
NC_000016.8:g.29733246_29733250delinsGAGTC	NCBI36
NG_032039.1:g.7337_7341delinsGAGTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000358758.12:c.971_975delinsGAGTC MANE Select	ENSP00000351608.7:p.Gly324=
ENST00000567551.2:c.431_435delinsGAGTC	ENSP00000489813.1:p.Gly144=
ENST00000636131.1:c.*147_*151delinsGAGTC	ENSP00000490390.1:n.*147_*151delinsGAGTC
ENST00000636619.1:c.816_820delinsGAGTC	ENSP00000489669.1:p.Gly272=
ENST00000637064.1:c.971_975delinsGAGTC	ENSP00000490826.1:p.Gly324=
ENST00000637290.1:c.*286_*290delinsGAGTC	ENSP00000490278.1:n.*286_*290delinsGAGTC
ENST00000637403.1:c.813_817delinsGAGTC	ENSP00000489782.1:p.Gly271=
ENST00000637565.1:c.420_424delinsGAGTC	ENSP00000490207.1:p.Gly140=
ENST00000647876.1:c.*470_*474delinsGAGTC	ENSP00000498021.1:n.*470_*474delinsGAGTC
ENST00000300797.7:c.*470_*474delinsGAGTC	ENSP00000300797.6:n.*470_*474delinsGAGTC
ENST00000358758.11:c.971_975delinsGAGTC	ENSP00000351608.7:p.Gly324=
ENST00000567659.3:c.971_975delinsGAGTC	ENSP00000456226.1:p.Gly324=
ENST00000572820.2:c.971_975delinsGAGTC	ENSP00000458291.2:p.Gly324=
ENST00000609618.2:c.960_964delinsGAGTC	ENSP00000476774.2:p.Gly320=
NM_001256442.1:c.971_975delinsGAGTC	NP_001243371.1:p.Gly324=
NM_001256443.1:c.*470_*474delinsGAGTC	NP_001243372.1:n.*470_*474delinsGAGTC
NM_145239.2:c.971_975delinsGAGTC	NP_660282.2:p.Gly324=
XM_011545715.1:c.971_975delinsGAGTC	XP_011544017.1:p.Gly324=
XM_011545716.1:c.971_975delinsGAGTC	XP_011544018.1:p.Gly324=
XM_011545717.1:c.971_975delinsGAGTC	XP_011544019.1:p.Gly324=
XM_011545718.1:c.971_975delinsGAGTC	XP_011544020.1:p.Gly324=
XM_011545715.3:c.971_975delinsGAGTC	XP_011544017.1:p.Gly324=
XM_017022887.2:c.971_975delinsGAGTC	XP_016878376.1:p.Gly324=
XM_017022888.2:c.971_975delinsGAGTC	XP_016878377.1:p.Gly324=
XM_017022889.2:c.971_975delinsGAGTC	XP_016878378.1:p.Gly324=
NM_145239.3:c.971_975delinsGAGTC MANE Select	NP_660282.2:p.Gly324=
NM_001256442.2:c.971_975delinsGAGTC	NP_001243371.1:p.Gly324=
NM_001256443.2:c.*470_*474delinsGAGTC	NP_001243372.1:n.*470_*474delinsGAGTC