Canonical Allele Identifier: CA3039014038

Gene: PRRT2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29813727_29813814del , CM000678.2:g.29813727_29813814del	GRCh38
NC_000016.9:g.29825048_29825135del , CM000678.1:g.29825048_29825135del	GRCh37
NC_000016.8:g.29732549_29732636del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358758.12:c.673_760del MANE Select	ENSP00000351608.7:p.Glu225LeufsTer?
ENST00000567551.2:c.339+334_339+421del	ENSP00000489813.1:n.339+334_339+421del
ENST00000636131.1:c.673_760del	ENSP00000490390.1:p.Glu225LeufsTer?
ENST00000636619.1:c.673_724+36del
ENST00000637064.1:c.673_760del	ENSP00000490826.1:p.Glu225LeufsTer?
ENST00000637290.1:c.381_*75del	ENSP00000490278.1:n.[c.381_*75del;Arg127SerfsTer7]
ENST00000637403.1:c.673_721+39del
ENST00000637565.1:c.339+334_339+421del	ENSP00000490207.1:n.339+334_339+421del
ENST00000647876.1:c.673_760del	ENSP00000498021.1:p.Glu225LeufsTer?
ENST00000300797.7:c.673_760del	ENSP00000300797.6:p.Glu225LeufsTer?
ENST00000358758.11:c.673_760del	ENSP00000351608.7:p.Glu225LeufsTer?
ENST00000567659.3:c.673_760del	ENSP00000456226.1:p.Glu225LeufsTer?
ENST00000572820.2:c.673_760del	ENSP00000458291.2:p.Glu225LeufsTer?
ENST00000609618.2:c.673_760del	ENSP00000476774.2:p.Glu225LeufsTer?
XM_011545715.1:c.673_760del	XP_011544017.1:p.Glu225LeufsTer?
XM_011545716.1:c.673_760del	XP_011544018.1:p.Glu225LeufsTer?
XM_011545717.1:c.673_760del	XP_011544019.1:p.Glu225LeufsTer?
XM_011545718.1:c.673_760del	XP_011544020.1:p.Glu225LeufsTer?
XM_011545715.3:c.673_760del	XP_011544017.1:p.Glu225LeufsTer?
XM_017022887.2:c.673_760del	XP_016878376.1:p.Glu225LeufsTer?
XM_017022888.2:c.673_760del	XP_016878377.1:p.Glu225LeufsTer?
XM_017022889.2:c.673_760del	XP_016878378.1:p.Glu225LeufsTer?
NM_145239.3:c.673_760del MANE Select	NP_660282.2:p.Glu225LeufsTer?
NM_001256442.2:c.673_760del	NP_001243371.1:p.Glu225LeufsTer?
NM_001256443.2:c.673_760del	NP_001243372.1:p.Glu225LeufsTer?