Canonical Allele Identifier: CA2510239714
Gene: PRKN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.162443255_162443260del , CM000668.2:g.162443255_162443260del GRCh38
NC_000006.11:g.162864287_162864292del , CM000668.1:g.162864287_162864292del GRCh37
NC_000006.10:g.162784277_162784282del NCBI36
NG_008289.1:g.289543_289548del
NG_008289.2:g.289543_289548del

Transcript Alleles

HGVS Amino-acid Change
ENST00000338468.8:c.171+50_171+55del ENSP00000343589.4:n.171+50_171+55del
ENST00000366894.6:c.171+50_171+55del ENSP00000355860.2:n.171+50_171+55del
ENST00000366898.6:c.171+50_171+55del MANE Select ENSP00000355865.1:n.171+50_171+55del
ENST00000673871.1:c.166+50_166+55del
ENST00000674232.1:n.189+50_189+55del
ENST00000674259.1:n.228+50_228+55del
ENST00000674493.1:n.188+50_188+55del
ENST00000674501.1:n.278+50_278+55del
ENST00000338468.7:c.-281+50_-281+55del ENSP00000343589.3:n.-281+50_-281+55del
ENST00000366892.5:c.171+50_171+55del ENSP00000355858.1:n.171+50_171+55del
ENST00000366894.5:c.-162+50_-162+55del ENSP00000355860.1:n.-162+50_-162+55del
ENST00000366896.5:c.171+50_171+55del ENSP00000355862.1:n.171+50_171+55del
ENST00000366897.5:c.171+50_171+55del ENSP00000355863.1:n.171+50_171+55del
ENST00000366898.5:c.171+50_171+55del ENSP00000355865.1:n.171+50_171+55del
ENST00000479615.5:c.-66-180495_-66-180490del ENSP00000434414.1:n.-66-180495_-66-180490del
NM_004562.2:c.171+50_171+55del NP_004553.2:n.171+50_171+55del
NM_013987.2:c.171+50_171+55del NP_054642.2:n.171+50_171+55del
NM_013988.2:c.171+50_171+55del NP_054643.2:n.171+50_171+55del
XM_011535863.1:c.171+50_171+55del XP_011534165.1:n.171+50_171+55del
XM_011535864.1:c.171+50_171+55del XP_011534166.1:n.171+50_171+55del
XM_011535865.1:c.171+50_171+55del XP_011534167.1:n.171+50_171+55del
XM_011535866.1:c.171+50_171+55del XP_011534168.1:n.171+50_171+55del
XM_011535867.1:c.171+50_171+55del XP_011534169.1:n.171+50_171+55del
XM_017010908.1:c.285+50_285+55del XP_016866397.1:n.285+50_285+55del
XM_017010909.2:c.-66-180495_-66-180490del XP_016866398.1:n.-66-180495_-66-180490del
XM_024446449.1:c.-66-180495_-66-180490del XP_024302217.1:n.-66-180495_-66-180490del
XR_001743443.2:n.277+50_277+55del
NM_004562.3:c.171+50_171+55del MANE Select NP_004553.2:n.171+50_171+55del
NM_013987.3:c.171+50_171+55del NP_054642.2:n.171+50_171+55del
NM_013988.3:c.171+50_171+55del NP_054643.2:n.171+50_171+55del