Canonical Allele Identifier: CA2505351007
Gene: PRKN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.162443279_162443280insG , CM000668.2:g.162443279_162443280insG GRCh38
NC_000006.11:g.162864311_162864312insG , CM000668.1:g.162864311_162864312insG GRCh37
NC_000006.10:g.162784301_162784302insG NCBI36
NG_008289.1:g.289523_289524insC
NG_008289.2:g.289523_289524insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000338468.8:c.171+30_171+31insC ENSP00000343589.4:n.171+30_171+31insC
ENST00000366894.6:c.171+30_171+31insC ENSP00000355860.2:n.171+30_171+31insC
ENST00000366898.6:c.171+30_171+31insC MANE Select ENSP00000355865.1:n.171+30_171+31insC
ENST00000673871.1:c.166+30_166+31insC
ENST00000674232.1:n.189+30_189+31insC
ENST00000674259.1:n.228+30_228+31insC
ENST00000674493.1:n.188+30_188+31insC
ENST00000674501.1:n.278+30_278+31insC
ENST00000338468.7:c.-281+30_-281+31insC ENSP00000343589.3:n.-281+30_-281+31insC
ENST00000366892.5:c.171+30_171+31insC ENSP00000355858.1:n.171+30_171+31insC
ENST00000366894.5:c.-162+30_-162+31insC ENSP00000355860.1:n.-162+30_-162+31insC
ENST00000366896.5:c.171+30_171+31insC ENSP00000355862.1:n.171+30_171+31insC
ENST00000366897.5:c.171+30_171+31insC ENSP00000355863.1:n.171+30_171+31insC
ENST00000366898.5:c.171+30_171+31insC ENSP00000355865.1:n.171+30_171+31insC
ENST00000479615.5:c.-66-180515_-66-180514insC ENSP00000434414.1:n.-66-180515_-66-180514insC
NM_004562.2:c.171+30_171+31insC NP_004553.2:n.171+30_171+31insC
NM_013987.2:c.171+30_171+31insC NP_054642.2:n.171+30_171+31insC
NM_013988.2:c.171+30_171+31insC NP_054643.2:n.171+30_171+31insC
XM_011535863.1:c.171+30_171+31insC XP_011534165.1:n.171+30_171+31insC
XM_011535864.1:c.171+30_171+31insC XP_011534166.1:n.171+30_171+31insC
XM_011535865.1:c.171+30_171+31insC XP_011534167.1:n.171+30_171+31insC
XM_011535866.1:c.171+30_171+31insC XP_011534168.1:n.171+30_171+31insC
XM_011535867.1:c.171+30_171+31insC XP_011534169.1:n.171+30_171+31insC
XM_017010908.1:c.285+30_285+31insC XP_016866397.1:n.285+30_285+31insC
XM_017010909.2:c.-66-180515_-66-180514insC XP_016866398.1:n.-66-180515_-66-180514insC
XM_024446449.1:c.-66-180515_-66-180514insC XP_024302217.1:n.-66-180515_-66-180514insC
XR_001743443.2:n.277+30_277+31insC
NM_004562.3:c.171+30_171+31insC MANE Select NP_004553.2:n.171+30_171+31insC
NM_013987.3:c.171+30_171+31insC NP_054642.2:n.171+30_171+31insC
NM_013988.3:c.171+30_171+31insC NP_054643.2:n.171+30_171+31insC