Canonical Allele Identifier: CA2216294211

Gene: PRRT2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29813783_29813795delinsGAGCCGCCACCCC , CM000678.2:g.29813783_29813795delinsGAGCCGCCACCCC	GRCh38
NC_000016.9:g.29825104_29825116delinsGAGCCGCCACCCC , CM000678.1:g.29825104_29825116delinsGAGCCGCCACCCC	GRCh37
NC_000016.8:g.29732605_29732617delinsGAGCCGCCACCCC	NCBI36
NG_032039.1:g.6696_6708delinsGAGCCGCCACCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000358758.12:c.729_741delinsGAGCCGCCACCCC MANE Select	ENSP00000351608.7:p.Leu243=
ENST00000567551.2:c.339+390_339+402delinsGAGCCGCCACCCC	ENSP00000489813.1:n.339+390_339+402delins...
ENST00000636131.1:c.729_741delinsGAGCCGCCACCCC	ENSP00000490390.1:p.Leu243=
ENST00000636619.1:c.724+5_724+17delinsGAGCCGCCACCCC	ENSP00000489669.1:n.724+5_724+17delinsGAG...
ENST00000637064.1:c.729_741delinsGAGCCGCCACCCC	ENSP00000490826.1:p.Leu243=
ENST00000637290.1:c.*44_*56delinsGAGCCGCCACCCC	ENSP00000490278.1:n.*44_*56delinsGAGCCGCC...
ENST00000637403.1:c.721+8_721+20delinsGAGCCGCCACCCC	ENSP00000489782.1:n.721+8_721+20delinsGAG...
ENST00000637565.1:c.339+390_339+402delinsGAGCCGCCACCCC	ENSP00000490207.1:n.339+390_339+402delins...
ENST00000647876.1:c.729_741delinsGAGCCGCCACCCC	ENSP00000498021.1:p.Leu243=
ENST00000300797.7:c.729_741delinsGAGCCGCCACCCC	ENSP00000300797.6:p.Leu243=
ENST00000358758.11:c.729_741delinsGAGCCGCCACCCC	ENSP00000351608.7:p.Leu243=
ENST00000567551.1:n.550_562delinsGAGCCGCCACCCC
ENST00000567659.3:c.729_741delinsGAGCCGCCACCCC	ENSP00000456226.1:p.Leu243=
ENST00000572820.2:c.729_741delinsGAGCCGCCACCCC	ENSP00000458291.2:p.Leu243=
ENST00000609618.2:c.729_741delinsGAGCCGCCACCCC	ENSP00000476774.2:p.Leu243=
NM_001256442.1:c.729_741delinsGAGCCGCCACCCC	NP_001243371.1:p.Leu243=
NM_001256443.1:c.729_741delinsGAGCCGCCACCCC	NP_001243372.1:p.Leu243=
NM_145239.2:c.729_741delinsGAGCCGCCACCCC	NP_660282.2:p.Leu243=
XM_011545715.1:c.729_741delinsGAGCCGCCACCCC	XP_011544017.1:p.Leu243=
XM_011545716.1:c.729_741delinsGAGCCGCCACCCC	XP_011544018.1:p.Leu243=
XM_011545717.1:c.729_741delinsGAGCCGCCACCCC	XP_011544019.1:p.Leu243=
XM_011545718.1:c.729_741delinsGAGCCGCCACCCC	XP_011544020.1:p.Leu243=
XM_011545715.3:c.729_741delinsGAGCCGCCACCCC	XP_011544017.1:p.Leu243=
XM_017022887.2:c.729_741delinsGAGCCGCCACCCC	XP_016878376.1:p.Leu243=
XM_017022888.2:c.729_741delinsGAGCCGCCACCCC	XP_016878377.1:p.Leu243=
XM_017022889.2:c.729_741delinsGAGCCGCCACCCC	XP_016878378.1:p.Leu243=
NM_145239.3:c.729_741delinsGAGCCGCCACCCC MANE Select	NP_660282.2:p.Leu243=
NM_001256442.2:c.729_741delinsGAGCCGCCACCCC	NP_001243371.1:p.Leu243=
NM_001256443.2:c.729_741delinsGAGCCGCCACCCC	NP_001243372.1:p.Leu243=