Canonical Allele Identifier: CA1677667864
Gene: PRKN HGNC NCBI

Linked Data

dbSNP Id: rs1788136557

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.161740329_161740332del , CM000668.2:g.161740329_161740332del GRCh38
NC_000006.11:g.162161361_162161364del , CM000668.1:g.162161361_162161364del GRCh37
NC_000006.10:g.162081351_162081354del NCBI36
NG_008289.1:g.992472_992475del
NG_008289.2:g.992472_992475del

Transcript Alleles

HGVS Amino-acid Change
ENST00000338468.8:c.749+45441_749+45444del ENSP00000343589.4:n.749+45441_749+45444del
ENST00000366894.6:c.630+45441_630+45444del ENSP00000355860.2:n.630+45441_630+45444del
ENST00000366898.6:c.871+45441_871+45444del MANE Select ENSP00000355865.1:n.871+45441_871+45444del
ENST00000673871.1:c.866+45441_866+45444del
ENST00000674006.1:n.256+45441_256+45444del
ENST00000674436.1:n.507+45441_507+45444del
ENST00000674501.1:n.978+45441_978+45444del
ENST00000338468.7:c.298+45441_298+45444del ENSP00000343589.3:n.298+45441_298+45444del
ENST00000366892.5:c.871+45441_871+45444del ENSP00000355858.1:n.871+45441_871+45444del
ENST00000366894.5:c.298+45441_298+45444del ENSP00000355860.1:n.298+45441_298+45444del
ENST00000366896.5:c.424+45441_424+45444del ENSP00000355862.1:n.424+45441_424+45444del
ENST00000366897.5:c.787+45441_787+45444del ENSP00000355863.1:n.787+45441_787+45444del
ENST00000366898.5:c.871+45441_871+45444del ENSP00000355865.1:n.871+45441_871+45444del
ENST00000479615.5:c.634+45441_634+45444del ENSP00000434414.1:n.634+45441_634+45444del
NM_004562.2:c.871+45441_871+45444del NP_004553.2:n.871+45441_871+45444del
NM_013987.2:c.787+45441_787+45444del NP_054642.2:n.787+45441_787+45444del
NM_013988.2:c.424+45441_424+45444del NP_054643.2:n.424+45441_424+45444del
XM_011535863.1:c.868+45441_868+45444del XP_011534165.1:n.868+45441_868+45444del
XM_011535864.1:c.871+45441_871+45444del XP_011534166.1:n.871+45441_871+45444del
XM_011535865.1:c.871+45441_871+45444del XP_011534167.1:n.871+45441_871+45444del
XM_017010908.1:c.985+45441_985+45444del XP_016866397.1:n.985+45441_985+45444del
XM_017010909.2:c.631+45441_631+45444del XP_016866398.1:n.631+45441_631+45444del
XM_024446449.1:c.634+45441_634+45444del XP_024302217.1:n.634+45441_634+45444del
XR_001743443.2:n.977+45441_977+45444del
NM_004562.3:c.871+45441_871+45444del MANE Select NP_004553.2:n.871+45441_871+45444del
NM_013987.3:c.787+45441_787+45444del NP_054642.2:n.787+45441_787+45444del
NM_013988.3:c.424+45441_424+45444del NP_054643.2:n.424+45441_424+45444del