Canonical Allele Identifier: CA915944802
Community Standard Title: NM_004562.3(PRKN):c.992del (p.Leu331TyrfsTer?)
Gene: PRKN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.161548946del , CM000668.2:g.161548946del GRCh38
NC_000006.11:g.161969978del , CM000668.1:g.161969978del GRCh37
NC_000006.10:g.161889968del NCBI36
NG_008289.1:g.1183858del
NG_008289.2:g.1183858del

Transcript Alleles

HGVS Amino-acid Change
NM_004562.3:c.992del MANE Select NP_004553.2:p.Leu331TyrfsTer?
ENST00000366898.6:c.992del MANE Select ENSP00000355865.1:p.Leu331TyrfsTer?
NM_004562.2:c.992del NP_004553.2:p.Leu331TyrfsTer?
NM_013987.2:c.908del NP_054642.2:p.Leu303TyrfsTer?
NM_013987.3:c.908del NP_054642.2:p.Leu303TyrfsTer?
NM_013988.2:c.545del NP_054643.2:p.Leu182TyrfsTer?
NM_013988.3:c.545del NP_054643.2:p.Leu182TyrfsTer?
ENST00000338468.7:c.419del ENSP00000343589.3:p.Leu140TyrfsTer?
ENST00000338468.8:c.870del ENSP00000343589.4:n.870del
ENST00000366892.5:c.992del ENSP00000355858.1:p.Leu331TyrfsTer?
ENST00000366894.5:c.419del ENSP00000355860.1:p.Leu140TyrfsTer?
ENST00000366894.6:c.751del ENSP00000355860.2:n.751del
ENST00000366896.5:c.545del ENSP00000355862.1:p.Leu182TyrfsTer?
ENST00000366897.5:c.908del ENSP00000355863.1:p.Leu303TyrfsTer?
ENST00000366898.5:c.992del ENSP00000355865.1:p.Leu331TyrfsTer?
ENST00000479615.5:c.635-162068del ENSP00000434414.1:n.635-162068del
ENST00000610470.4:c.125del ENSP00000483773.1:p.Leu42TyrfsTer?
ENST00000612485.1:c.122del ENSP00000480716.1:p.Leu41TyrfsTer?
ENST00000673871.1:c.987del
ENST00000674006.1:n.377del
ENST00000674436.1:n.628del
ENST00000674501.1:n.1099del
XM_011535863.1:c.989del XP_011534165.1:p.Leu330TyrfsTer?
XM_011535864.1:c.992del XP_011534166.1:p.Leu331TyrfsTer?
XM_011535865.1:c.992del XP_011534167.1:p.Leu331TyrfsTer?
XM_017010908.1:c.1106del XP_016866397.1:p.Leu369TyrfsTer?
XM_017010909.2:c.752del XP_016866398.1:p.Leu251TyrfsTer?
XM_024446449.1:c.755del XP_024302217.1:p.Leu252TyrfsTer?
XR_001743443.2:n.1098del