Canonical Allele Identifier: CA1677667943
Gene: PRKN HGNC NCBI

Linked Data

dbSNP Id: rs1788140209

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.161740434_161740435del , CM000668.2:g.161740434_161740435del GRCh38
NC_000006.11:g.162161466_162161467del , CM000668.1:g.162161466_162161467del GRCh37
NC_000006.10:g.162081456_162081457del NCBI36
NG_008289.1:g.992370_992371del
NG_008289.2:g.992370_992371del

Transcript Alleles

HGVS Amino-acid Change
ENST00000338468.8:c.749+45339_749+45340del ENSP00000343589.4:n.749+45339_749+45340del
ENST00000366894.6:c.630+45339_630+45340del ENSP00000355860.2:n.630+45339_630+45340del
ENST00000366898.6:c.871+45339_871+45340del MANE Select ENSP00000355865.1:n.871+45339_871+45340del
ENST00000673871.1:c.866+45339_866+45340del
ENST00000674006.1:n.256+45339_256+45340del
ENST00000674436.1:n.507+45339_507+45340del
ENST00000674501.1:n.978+45339_978+45340del
ENST00000338468.7:c.298+45339_298+45340del ENSP00000343589.3:n.298+45339_298+45340del
ENST00000366892.5:c.871+45339_871+45340del ENSP00000355858.1:n.871+45339_871+45340del
ENST00000366894.5:c.298+45339_298+45340del ENSP00000355860.1:n.298+45339_298+45340del
ENST00000366896.5:c.424+45339_424+45340del ENSP00000355862.1:n.424+45339_424+45340del
ENST00000366897.5:c.787+45339_787+45340del ENSP00000355863.1:n.787+45339_787+45340del
ENST00000366898.5:c.871+45339_871+45340del ENSP00000355865.1:n.871+45339_871+45340del
ENST00000479615.5:c.634+45339_634+45340del ENSP00000434414.1:n.634+45339_634+45340del
NM_004562.2:c.871+45339_871+45340del NP_004553.2:n.871+45339_871+45340del
NM_013987.2:c.787+45339_787+45340del NP_054642.2:n.787+45339_787+45340del
NM_013988.2:c.424+45339_424+45340del NP_054643.2:n.424+45339_424+45340del
XM_011535863.1:c.868+45339_868+45340del XP_011534165.1:n.868+45339_868+45340del
XM_011535864.1:c.871+45339_871+45340del XP_011534166.1:n.871+45339_871+45340del
XM_011535865.1:c.871+45339_871+45340del XP_011534167.1:n.871+45339_871+45340del
XM_017010908.1:c.985+45339_985+45340del XP_016866397.1:n.985+45339_985+45340del
XM_017010909.2:c.631+45339_631+45340del XP_016866398.1:n.631+45339_631+45340del
XM_024446449.1:c.634+45339_634+45340del XP_024302217.1:n.634+45339_634+45340del
XR_001743443.2:n.977+45339_977+45340del
NM_004562.3:c.871+45339_871+45340del MANE Select NP_004553.2:n.871+45339_871+45340del
NM_013987.3:c.787+45339_787+45340del NP_054642.2:n.787+45339_787+45340del
NM_013988.3:c.424+45339_424+45340del NP_054643.2:n.424+45339_424+45340del