Canonical Allele Identifier: CA2840052591

Gene: PRRT2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29813812_29813814del , CM000678.2:g.29813812_29813814del	GRCh38
NC_000016.9:g.29825133_29825135del , CM000678.1:g.29825133_29825135del	GRCh37
NC_000016.8:g.29732634_29732636del	NCBI36
NG_032039.1:g.6725_6727del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358758.12:c.758_760del MANE Select	ENSP00000351608.7:p.Gly253_Pro254delinsAla
ENST00000567551.2:c.339+419_339+421del	ENSP00000489813.1:n.339+419_339+421del
ENST00000636131.1:c.758_760del	ENSP00000490390.1:p.Gly253_Pro254delinsAla
ENST00000636619.1:c.724+34_724+36del	ENSP00000489669.1:n.724+34_724+36del
ENST00000637064.1:c.758_760del	ENSP00000490826.1:p.Gly253_Pro254delinsAla
ENST00000637290.1:c.*73_*75del	ENSP00000490278.1:n.*73_*75del
ENST00000637403.1:c.721+37_721+39del	ENSP00000489782.1:n.721+37_721+39del
ENST00000637565.1:c.339+419_339+421del	ENSP00000490207.1:n.339+419_339+421del
ENST00000647876.1:c.758_760del	ENSP00000498021.1:p.Gly253_Pro254delinsAla
ENST00000300797.7:c.758_760del	ENSP00000300797.6:p.Gly253_Pro254delinsAla
ENST00000358758.11:c.758_760del	ENSP00000351608.7:p.Gly253_Pro254delinsAla
ENST00000567659.3:c.758_760del	ENSP00000456226.1:p.Gly253_Pro254delinsAla
ENST00000572820.2:c.758_760del	ENSP00000458291.2:p.Gly253_Pro254delinsAla
ENST00000609618.2:c.758_760del	ENSP00000476774.2:p.Gly253_Pro254delinsAla
NM_001256442.1:c.758_760del	NP_001243371.1:p.Gly253_Pro254delinsAla
NM_001256443.1:c.758_760del	NP_001243372.1:p.Gly253_Pro254delinsAla
NM_145239.2:c.758_760del	NP_660282.2:p.Gly253_Pro254delinsAla
XM_011545715.1:c.758_760del	XP_011544017.1:p.Gly253_Pro254delinsAla
XM_011545716.1:c.758_760del	XP_011544018.1:p.Gly253_Pro254delinsAla
XM_011545717.1:c.758_760del	XP_011544019.1:p.Gly253_Pro254delinsAla
XM_011545718.1:c.758_760del	XP_011544020.1:p.Gly253_Pro254delinsAla
XM_011545715.3:c.758_760del	XP_011544017.1:p.Gly253_Pro254delinsAla
XM_017022887.2:c.758_760del	XP_016878376.1:p.Gly253_Pro254delinsAla
XM_017022888.2:c.758_760del	XP_016878377.1:p.Gly253_Pro254delinsAla
XM_017022889.2:c.758_760del	XP_016878378.1:p.Gly253_Pro254delinsAla
NM_145239.3:c.758_760del MANE Select	NP_660282.2:p.Gly253_Pro254delinsAla
NM_001256442.2:c.758_760del	NP_001243371.1:p.Gly253_Pro254delinsAla
NM_001256443.2:c.758_760del	NP_001243372.1:p.Gly253_Pro254delinsAla