Canonical Allele Identifier: CA2632605022

Gene: PRRT2

Linked Data

• gnomAD v4: 16-29813848-CTCGGGACTACATCATCCTTGCCATCCTGTCCTGCTTCTGCCCCATGTGGCCTGTCAACATCGTGGCCTTCGCTTATGCTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.29813851_29813930del , CM000678.2:g.29813851_29813930del	GRCh38
NC_000016.9:g.29825172_29825251del , CM000678.1:g.29825172_29825251del	GRCh37
NC_000016.8:g.29732673_29732752del	NCBI36
NG_032039.1:g.6764_6843del

Transcript Alleles

HGVS	Amino-acid change
ENST00000358758.12:c.797_876del MANE Select	ENSP00000351608.7:p.Arg266HisfsTer?
ENST00000567551.2:c.339+458_340-403del	ENSP00000489813.1:n.339+458_340-403del
ENST00000636131.1:c.797_876del	ENSP00000490390.1:p.Arg266HisfsTer?
ENST00000636619.1:c.724+73_724+152del	ENSP00000489669.1:n.724+73_724+152del
ENST00000637064.1:c.797_876del	ENSP00000490826.1:p.Arg266HisfsTer?
ENST00000637290.1:c.*112_*191del	ENSP00000490278.1:n.*112_*191del
ENST00000637403.1:c.721+76_721+155del	ENSP00000489782.1:n.721+76_721+155del
ENST00000637565.1:c.339+458_340-414del	ENSP00000490207.1:n.339+458_340-414del
ENST00000647876.1:c.797_876del	ENSP00000498021.1:p.Arg266HisfsTer28
ENST00000300797.7:c.797_876del	ENSP00000300797.6:p.Arg266HisfsTer28
ENST00000358758.11:c.797_876del	ENSP00000351608.7:p.Arg266HisfsTer?
ENST00000567659.3:c.797_876del	ENSP00000456226.1:p.Arg266HisfsTer?
ENST00000572820.2:c.797_876del	ENSP00000458291.2:p.Arg266HisfsTer?
ENST00000609618.2:c.797_876del	ENSP00000476774.2:p.Arg266HisfsTer17
NM_001256442.1:c.797_876del	NP_001243371.1:p.Arg266HisfsTer?
NM_001256443.1:c.797_876del	NP_001243372.1:p.Arg266HisfsTer28
NM_145239.2:c.797_876del	NP_660282.2:p.Arg266HisfsTer?
XM_011545715.1:c.797_876del	XP_011544017.1:p.Arg266HisfsTer?
XM_011545716.1:c.797_876del	XP_011544018.1:p.Arg266HisfsTer?
XM_011545717.1:c.797_876del	XP_011544019.1:p.Arg266HisfsTer?
XM_011545718.1:c.797_876del	XP_011544020.1:p.Arg266HisfsTer?
XM_011545715.3:c.797_876del	XP_011544017.1:p.Arg266HisfsTer?
XM_017022887.2:c.797_876del	XP_016878376.1:p.Arg266HisfsTer?
XM_017022888.2:c.797_876del	XP_016878377.1:p.Arg266HisfsTer?
XM_017022889.2:c.797_876del	XP_016878378.1:p.Arg266HisfsTer?
NM_145239.3:c.797_876del MANE Select	NP_660282.2:p.Arg266HisfsTer?
NM_001256442.2:c.797_876del	NP_001243371.1:p.Arg266HisfsTer?
NM_001256443.2:c.797_876del	NP_001243372.1:p.Arg266HisfsTer28