Canonical Allele Identifier: CA2562512862
Gene: PRKN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.162443300_162443301del , CM000668.2:g.162443300_162443301del GRCh38
NC_000006.11:g.162864332_162864333del , CM000668.1:g.162864332_162864333del GRCh37
NC_000006.10:g.162784322_162784323del NCBI36
NG_008289.1:g.289503_289504del
NG_008289.2:g.289503_289504del

Transcript Alleles

HGVS Amino-acid Change
ENST00000338468.8:c.171+10_171+11del ENSP00000343589.4:n.171+10_171+11del
ENST00000366894.6:c.171+10_171+11del ENSP00000355860.2:n.171+10_171+11del
ENST00000366898.6:c.171+10_171+11del MANE Select ENSP00000355865.1:n.171+10_171+11del
ENST00000673871.1:c.166+10_166+11del
ENST00000674232.1:n.189+10_189+11del
ENST00000674259.1:n.228+10_228+11del
ENST00000674493.1:n.188+10_188+11del
ENST00000674501.1:n.278+10_278+11del
ENST00000338468.7:c.-281+10_-281+11del ENSP00000343589.3:n.-281+10_-281+11del
ENST00000366892.5:c.171+10_171+11del ENSP00000355858.1:n.171+10_171+11del
ENST00000366894.5:c.-162+10_-162+11del ENSP00000355860.1:n.-162+10_-162+11del
ENST00000366896.5:c.171+10_171+11del ENSP00000355862.1:n.171+10_171+11del
ENST00000366897.5:c.171+10_171+11del ENSP00000355863.1:n.171+10_171+11del
ENST00000366898.5:c.171+10_171+11del ENSP00000355865.1:n.171+10_171+11del
ENST00000479615.5:c.-66-180535_-66-180534del ENSP00000434414.1:n.-66-180535_-66-180534del
NM_004562.2:c.171+10_171+11del NP_004553.2:n.171+10_171+11del
NM_013987.2:c.171+10_171+11del NP_054642.2:n.171+10_171+11del
NM_013988.2:c.171+10_171+11del NP_054643.2:n.171+10_171+11del
XM_011535863.1:c.171+10_171+11del XP_011534165.1:n.171+10_171+11del
XM_011535864.1:c.171+10_171+11del XP_011534166.1:n.171+10_171+11del
XM_011535865.1:c.171+10_171+11del XP_011534167.1:n.171+10_171+11del
XM_011535866.1:c.171+10_171+11del XP_011534168.1:n.171+10_171+11del
XM_011535867.1:c.171+10_171+11del XP_011534169.1:n.171+10_171+11del
XM_017010908.1:c.285+10_285+11del XP_016866397.1:n.285+10_285+11del
XM_017010909.2:c.-66-180535_-66-180534del XP_016866398.1:n.-66-180535_-66-180534del
XM_024446449.1:c.-66-180535_-66-180534del XP_024302217.1:n.-66-180535_-66-180534del
XR_001743443.2:n.277+10_277+11del
NM_004562.3:c.171+10_171+11del MANE Select NP_004553.2:n.171+10_171+11del
NM_013987.3:c.171+10_171+11del NP_054642.2:n.171+10_171+11del
NM_013988.3:c.171+10_171+11del NP_054643.2:n.171+10_171+11del