Canonical Allele Identifier: CA2499218193

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162046157_162046249delinsTTCGTTTTTTGCCTTTCCATAGAATGATTCAAAAGCCAAACGTGTCAGTCCGAGGCTGTGTTGATGGTTGCATTGCAGGTTTAGACAAAGGCC , CM000668.2:g.162046157_162046249delinsTTCGTTTTTTGCCTTTCCATAGAATGATTCAAAAGCCAAACGTGTCAGTCCGAGGCTGTGTTGATGGTTGCATTGCAGGTTTAGACAAAGGCC	GRCh38
NC_000006.11:g.162467189_162467281delinsTTCGTTTTTTGCCTTTCCATAGAATGATTCAAAAGCCAAACGTGTCAGTCCGAGGCTGTGTTGATGGTTGCATTGCAGGTTTAGACAAAGGCC , CM000668.1:g.162467189_162467281delinsTTCGTTTTTTGCCTTTCCATAGAATGATTCAAAAGCCAAACGTGTCAGTCCGAGGCTGTGTTGATGGTTGCATTGCAGGTTTAGACAAAGGCC	GRCh37
NC_000006.10:g.162387179_162387271delinsTTCGTTTTTTGCCTTTCCATAGAATGATTCAAAAGCCAAACGTGTCAGTCCGAGGCTGTGTTGATGGTTGCATTGCAGGTTTAGACAAAGGCC	NCBI36
NG_008289.1:g.686554_686646delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA
NG_008289.2:g.686554_686646delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA

Transcript Alleles

HGVS	Amino-acid Change
NM_004562.3:c.618+7842_618+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA MANE Select	NP_004553.2:n.618+7842_618+7934delinsGGCCTTTGTCTAAACCTGCAATGC...
ENST00000366898.6:c.618+7842_618+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA MANE Select	ENSP00000355865.1:n.618+7842_618+7934delinsGGCCTTTGTCTAAACCTG...
NM_004562.2:c.618+7842_618+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	NP_004553.2:n.618+7842_618+7934delinsGGCCTTTGTCTAAACCTGCAATGC...
NM_013987.2:c.535-72832_535-72740delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	NP_054642.2:n.535-72832_535-72740delinsGGCCTTTGTCTAAACCTGCAAT...
NM_013987.3:c.535-72832_535-72740delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	NP_054642.2:n.535-72832_535-72740delinsGGCCTTTGTCTAAACCTGCAAT...
NM_013988.2:c.172-72832_172-72740delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	NP_054643.2:n.172-72832_172-72740delinsGGCCTTTGTCTAAACCTGCAAT...
NM_013988.3:c.172-72832_172-72740delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	NP_054643.2:n.172-72832_172-72740delinsGGCCTTTGTCTAAACCTGCAAT...
ENST00000338468.7:c.45+7842_45+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	ENSP00000343589.3:n.45+7842_45+7934delinsGGCCTTTGTCTAAACCTGCA...
ENST00000338468.8:c.496+7842_496+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	ENSP00000343589.4:n.496+7842_496+7934delinsGGCCTTTGTCTAAACCTG...
ENST00000366892.5:c.618+7842_618+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	ENSP00000355858.1:n.618+7842_618+7934delinsGGCCTTTGTCTAAACCTG...
ENST00000366894.5:c.45+7842_45+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	ENSP00000355860.1:n.45+7842_45+7934delinsGGCCTTTGTCTAAACCTGCA...
ENST00000366894.6:c.377+7842_377+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	ENSP00000355860.2:n.377+7842_377+7934delinsGGCCTTTGTCTAAACCTG...
ENST00000366896.5:c.172-72832_172-72740delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	ENSP00000355862.1:n.172-72832_172-72740delinsGGCCTTTGTCTAAACC...
ENST00000366897.5:c.535-72832_535-72740delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	ENSP00000355863.1:n.535-72832_535-72740delinsGGCCTTTGTCTAAACC...
ENST00000366898.5:c.618+7842_618+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	ENSP00000355865.1:n.618+7842_618+7934delinsGGCCTTTGTCTAAACCTG...
ENST00000479615.5:c.381+7842_381+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	ENSP00000434414.1:n.381+7842_381+7934delinsGGCCTTTGTCTAAACCTG...
ENST00000673871.1:c.613+7842_613+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA
ENST00000674232.1:n.636+7842_636+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA
ENST00000674436.1:n.254+7842_254+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA
ENST00000674501.1:n.725+7842_725+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA
XM_011535863.1:c.615+7842_615+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	XP_011534165.1:n.615+7842_615+7934delinsGGCCTTTGTCTAAACCTGCAA...
XM_011535864.1:c.618+7842_618+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	XP_011534166.1:n.618+7842_618+7934delinsGGCCTTTGTCTAAACCTGCAA...
XM_011535865.1:c.618+7842_618+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	XP_011534167.1:n.618+7842_618+7934delinsGGCCTTTGTCTAAACCTGCAA...
XM_011535866.1:c.618+7842_618+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	XP_011534168.1:n.618+7842_618+7934delinsGGCCTTTGTCTAAACCTGCAA...
XM_011535867.1:c.618+7842_618+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	XP_011534169.1:n.618+7842_618+7934delinsGGCCTTTGTCTAAACCTGCAA...
XM_017010908.1:c.732+7842_732+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	XP_016866397.1:n.732+7842_732+7934delinsGGCCTTTGTCTAAACCTGCAA...
XM_017010909.2:c.378+7842_378+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	XP_016866398.1:n.378+7842_378+7934delinsGGCCTTTGTCTAAACCTGCAA...
XM_024446449.1:c.381+7842_381+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA	XP_024302217.1:n.381+7842_381+7934delinsGGCCTTTGTCTAAACCTGCAA...
XR_001743443.2:n.724+7842_724+7934delinsGGCCTTTGTCTAAACCTGCAATGCAACCATCAACACAGCCTCGGACTGACACGTTTGGCTTTTGAATCATTCTATGGAAAGGCAAAAAACGAA