Canonical Allele Identifier: CA2681116690
Gene: PRKN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.162443470_162443473del , CM000668.2:g.162443470_162443473del GRCh38
NC_000006.11:g.162864502_162864505del , CM000668.1:g.162864502_162864505del GRCh37
NC_000006.10:g.162784492_162784495del NCBI36
NG_008289.1:g.289333_289336del
NG_008289.2:g.289333_289336del

Transcript Alleles

HGVS Amino-acid Change
ENST00000338468.8:c.11_14del ENSP00000343589.4:p.Phe4SerfsTer?
ENST00000366894.6:c.11_14del ENSP00000355860.2:p.Phe4SerfsTer?
ENST00000366898.6:c.11_14del MANE Select ENSP00000355865.1:p.Phe4SerfsTer?
ENST00000648830.1:n.178_181del
ENST00000673871.1:c.6_9del
ENST00000674232.1:n.29_32del
ENST00000674259.1:n.68_71del
ENST00000674493.1:n.28_31del
ENST00000674501.1:n.118_121del
ENST00000338468.7:c.-441_-438del ENSP00000343589.3:n.-441_-438del
ENST00000366892.5:c.11_14del ENSP00000355858.1:p.Phe4SerfsTer?
ENST00000366894.5:c.-322_-319del ENSP00000355860.1:n.-322_-319del
ENST00000366896.5:c.11_14del ENSP00000355862.1:p.Phe4SerfsTer?
ENST00000366897.5:c.11_14del ENSP00000355863.1:p.Phe4SerfsTer?
ENST00000366898.5:c.11_14del ENSP00000355865.1:p.Phe4SerfsTer?
ENST00000479615.5:c.-66-180705_-66-180702del ENSP00000434414.1:n.-66-180705_-66-180702del
NM_004562.2:c.11_14del NP_004553.2:p.Phe4SerfsTer?
NM_013987.2:c.11_14del NP_054642.2:p.Phe4SerfsTer?
NM_013988.2:c.11_14del NP_054643.2:p.Phe4SerfsTer?
XM_011535863.1:c.11_14del XP_011534165.1:p.Phe4SerfsTer?
XM_011535864.1:c.11_14del XP_011534166.1:p.Phe4SerfsTer?
XM_011535865.1:c.11_14del XP_011534167.1:p.Phe4SerfsTer?
XM_011535866.1:c.11_14del XP_011534168.1:p.Phe4SerfsTer?
XM_011535867.1:c.11_14del XP_011534169.1:p.Phe4SerfsTer?
XM_017010908.1:c.125_128del XP_016866397.1:p.Phe42SerfsTer?
XM_017010909.2:c.-66-180705_-66-180702del XP_016866398.1:n.-66-180705_-66-180702del
XM_024446449.1:c.-66-180705_-66-180702del XP_024302217.1:n.-66-180705_-66-180702del
XR_001743443.2:n.117_120del
NM_004562.3:c.11_14del MANE Select NP_004553.2:p.Phe4SerfsTer?
NM_013987.3:c.11_14del NP_054642.2:p.Phe4SerfsTer?
NM_013988.3:c.11_14del NP_054643.2:p.Phe4SerfsTer?