Canonical Allele Identifier: CA2695223041

Gene: PRRT2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29814438_29814440dup , CM000678.2:g.29814438_29814440dup	GRCh38
NC_000016.9:g.29825759_29825761dup , CM000678.1:g.29825759_29825761dup	GRCh37
NC_000016.8:g.29733260_29733262dup	NCBI36
NG_032039.1:g.7351_7353dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000358758.12:c.985_987dup MANE Select	ENSP00000351608.7:p.Ile329_Ala330insIle
ENST00000636131.1:c.*161_*163dup	ENSP00000490390.1:n.*161_*163dup
ENST00000636619.1:c.830_832dup	ENSP00000489669.1:p.His277_Arg278insHis
ENST00000637064.1:c.985_987dup	ENSP00000490826.1:p.Ile329_Ala330insIle
ENST00000637290.1:c.*300_*302dup	ENSP00000490278.1:n.*300_*302dup
ENST00000637403.1:c.827_829dup	ENSP00000489782.1:p.His276_Arg277insHis
ENST00000637565.1:c.434_436dup	ENSP00000490207.1:p.His145_Arg146insHis
ENST00000647876.1:c.*484_*486dup	ENSP00000498021.1:n.*484_*486dup
ENST00000300797.7:c.*484_*486dup	ENSP00000300797.6:n.*484_*486dup
ENST00000358758.11:c.985_987dup	ENSP00000351608.7:p.Ile329_Ala330insIle
ENST00000567659.3:c.985_987dup	ENSP00000456226.1:p.Ile329_Ala330insIle
ENST00000572820.2:c.985_987dup	ENSP00000458291.2:p.Ile329_Ala330insIle
ENST00000609618.2:c.974_976dup	ENSP00000476774.2:p.His325_Arg326insHis
NM_001256442.1:c.985_987dup	NP_001243371.1:p.Ile329_Ala330insIle
NM_001256443.1:c.*484_*486dup	NP_001243372.1:n.*484_*486dup
NM_145239.2:c.985_987dup	NP_660282.2:p.Ile329_Ala330insIle
XM_011545715.1:c.985_987dup	XP_011544017.1:p.Ile329_Ala330insIle
XM_011545716.1:c.985_987dup	XP_011544018.1:p.Ile329_Ala330insIle
XM_011545717.1:c.985_987dup	XP_011544019.1:p.Ile329_Ala330insIle
XM_011545718.1:c.985_987dup	XP_011544020.1:p.Ile329_Ala330insIle
XM_011545715.3:c.985_987dup	XP_011544017.1:p.Ile329_Ala330insIle
XM_017022887.2:c.985_987dup	XP_016878376.1:p.Ile329_Ala330insIle
XM_017022888.2:c.985_987dup	XP_016878377.1:p.Ile329_Ala330insIle
XM_017022889.2:c.985_987dup	XP_016878378.1:p.Ile329_Ala330insIle
NM_145239.3:c.985_987dup MANE Select	NP_660282.2:p.Ile329_Ala330insIle
NM_001256442.2:c.985_987dup	NP_001243371.1:p.Ile329_Ala330insIle
NM_001256443.2:c.*484_*486dup	NP_001243372.1:n.*484_*486dup