Canonical Allele Identifier: CA919687273
Gene: PRRT2 HGNC NCBI

Linked Data

dbSNP Id: rs1567380212

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.29813990_29813994del , CM000678.2:g.29813990_29813994del GRCh38
NC_000016.9:g.29825311_29825315del , CM000678.1:g.29825311_29825315del GRCh37
NC_000016.8:g.29732812_29732816del NCBI36
NG_032039.1:g.6903_6907del

Transcript Alleles

HGVS Amino-acid Change
ENST00000358758.12:c.879+57_879+61del MANE Select ENSP00000351608.7:n.879+57_879+61del
ENST00000567551.2:c.340-343_340-339del ENSP00000489813.1:n.340-343_340-339del
ENST00000636131.1:c.*36_*40del ENSP00000490390.1:n.*36_*40del
ENST00000636619.1:c.724+212_724+216del ENSP00000489669.1:n.724+212_724+216del
ENST00000637064.1:c.879+57_879+61del ENSP00000490826.1:n.879+57_879+61del
ENST00000637290.1:c.*194+57_*194+61del ENSP00000490278.1:n.*194+57_*194+61del
ENST00000637403.1:c.721+215_721+219del ENSP00000489782.1:n.721+215_721+219del
ENST00000637565.1:c.340-354_340-350del ENSP00000490207.1:n.340-354_340-350del
ENST00000647876.1:c.*36_*40del ENSP00000498021.1:n.*36_*40del
ENST00000300797.7:c.*36_*40del ENSP00000300797.6:n.*36_*40del
ENST00000358758.11:c.879+57_879+61del ENSP00000351608.7:n.879+57_879+61del
ENST00000567659.3:c.879+57_879+61del ENSP00000456226.1:n.879+57_879+61del
ENST00000572820.2:c.879+57_879+61del ENSP00000458291.2:n.879+57_879+61del
ENST00000609618.2:c.879+57_879+61del ENSP00000476774.2:n.879+57_879+61del
NM_001256442.1:c.879+57_879+61del NP_001243371.1:n.879+57_879+61del
NM_001256443.1:c.*36_*40del NP_001243372.1:n.*36_*40del
NM_145239.2:c.879+57_879+61del NP_660282.2:n.879+57_879+61del
XM_011545715.1:c.879+57_879+61del XP_011544017.1:n.879+57_879+61del
XM_011545716.1:c.879+57_879+61del XP_011544018.1:n.879+57_879+61del
XM_011545717.1:c.879+57_879+61del XP_011544019.1:n.879+57_879+61del
XM_011545718.1:c.879+57_879+61del XP_011544020.1:n.879+57_879+61del
XM_011545715.3:c.879+57_879+61del XP_011544017.1:n.879+57_879+61del
XM_017022887.2:c.879+57_879+61del XP_016878376.1:n.879+57_879+61del
XM_017022888.2:c.879+57_879+61del XP_016878377.1:n.879+57_879+61del
XM_017022889.2:c.879+57_879+61del XP_016878378.1:n.879+57_879+61del
NM_145239.3:c.879+57_879+61del MANE Select NP_660282.2:n.879+57_879+61del
NM_001256442.2:c.879+57_879+61del NP_001243371.1:n.879+57_879+61del
NM_001256443.2:c.*36_*40del NP_001243372.1:n.*36_*40del