Canonical Allele Identifier: CA2512195800
Gene: PRKN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.162443288_162443290del , CM000668.2:g.162443288_162443290del GRCh38
NC_000006.11:g.162864320_162864322del , CM000668.1:g.162864320_162864322del GRCh37
NC_000006.10:g.162784310_162784312del NCBI36
NG_008289.1:g.289513_289515del
NG_008289.2:g.289513_289515del

Transcript Alleles

HGVS Amino-acid Change
ENST00000338468.8:c.171+20_171+22del ENSP00000343589.4:n.171+20_171+22del
ENST00000366894.6:c.171+20_171+22del ENSP00000355860.2:n.171+20_171+22del
ENST00000366898.6:c.171+20_171+22del MANE Select ENSP00000355865.1:n.171+20_171+22del
ENST00000673871.1:c.166+20_166+22del
ENST00000674232.1:n.189+20_189+22del
ENST00000674259.1:n.228+20_228+22del
ENST00000674493.1:n.188+20_188+22del
ENST00000674501.1:n.278+20_278+22del
ENST00000338468.7:c.-281+20_-281+22del ENSP00000343589.3:n.-281+20_-281+22del
ENST00000366892.5:c.171+20_171+22del ENSP00000355858.1:n.171+20_171+22del
ENST00000366894.5:c.-162+20_-162+22del ENSP00000355860.1:n.-162+20_-162+22del
ENST00000366896.5:c.171+20_171+22del ENSP00000355862.1:n.171+20_171+22del
ENST00000366897.5:c.171+20_171+22del ENSP00000355863.1:n.171+20_171+22del
ENST00000366898.5:c.171+20_171+22del ENSP00000355865.1:n.171+20_171+22del
ENST00000479615.5:c.-66-180525_-66-180523del ENSP00000434414.1:n.-66-180525_-66-180523del
NM_004562.2:c.171+20_171+22del NP_004553.2:n.171+20_171+22del
NM_013987.2:c.171+20_171+22del NP_054642.2:n.171+20_171+22del
NM_013988.2:c.171+20_171+22del NP_054643.2:n.171+20_171+22del
XM_011535863.1:c.171+20_171+22del XP_011534165.1:n.171+20_171+22del
XM_011535864.1:c.171+20_171+22del XP_011534166.1:n.171+20_171+22del
XM_011535865.1:c.171+20_171+22del XP_011534167.1:n.171+20_171+22del
XM_011535866.1:c.171+20_171+22del XP_011534168.1:n.171+20_171+22del
XM_011535867.1:c.171+20_171+22del XP_011534169.1:n.171+20_171+22del
XM_017010908.1:c.285+20_285+22del XP_016866397.1:n.285+20_285+22del
XM_017010909.2:c.-66-180525_-66-180523del XP_016866398.1:n.-66-180525_-66-180523del
XM_024446449.1:c.-66-180525_-66-180523del XP_024302217.1:n.-66-180525_-66-180523del
XR_001743443.2:n.277+20_277+22del
NM_004562.3:c.171+20_171+22del MANE Select NP_004553.2:n.171+20_171+22del
NM_013987.3:c.171+20_171+22del NP_054642.2:n.171+20_171+22del
NM_013988.3:c.171+20_171+22del NP_054643.2:n.171+20_171+22del