Canonical Allele Identifier: CA2578791820

Gene: PRKN

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350123del , CM000668.2:g.161350123del	GRCh38
NC_000006.11:g.161771155del , CM000668.1:g.161771155del	GRCh37
NC_000006.10:g.161691145del	NCBI36
NG_008289.1:g.1382684del
NG_008289.2:g.1382684del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1256del	ENSP00000343589.4:n.1256del
ENST00000366894.6:c.1137del	ENSP00000355860.2:n.1137del
ENST00000366898.6:c.1378del MANE Select	ENSP00000355865.1:p.Asp460ThrfsTer?
ENST00000673871.1:c.1459del
ENST00000674006.1:n.763del
ENST00000674436.1:n.1014del
ENST00000338468.7:c.805del	ENSP00000343589.3:p.Asp269ThrfsTer?
ENST00000366894.5:c.805del	ENSP00000355860.1:p.Asp269ThrfsTer?
ENST00000366896.5:c.931del	ENSP00000355862.1:p.Asp311ThrfsTer?
ENST00000366897.5:c.1294del	ENSP00000355863.1:p.Asp432ThrfsTer?
ENST00000366898.5:c.1378del	ENSP00000355865.1:p.Asp460ThrfsTer?
ENST00000479615.5:c.*154del	ENSP00000434414.1:n.*154del
ENST00000610470.4:c.511del	ENSP00000483773.1:p.Asp171ThrfsTer?
NM_004562.2:c.1378del	NP_004553.2:p.Asp460ThrfsTer?
NM_013987.2:c.1294del	NP_054642.2:p.Asp432ThrfsTer?
NM_013988.2:c.931del	NP_054643.2:p.Asp311ThrfsTer?
XM_011535863.1:c.1375del	XP_011534165.1:p.Asp459ThrfsTer?
XM_017010908.1:c.1492del	XP_016866397.1:p.Asp498ThrfsTer?
XM_017010909.2:c.1138del	XP_016866398.1:p.Asp380ThrfsTer?
XM_024446449.1:c.1141del	XP_024302217.1:p.Asp381ThrfsTer?
XR_001743443.2:n.1570del
NM_004562.3:c.1378del MANE Select	NP_004553.2:p.Asp460ThrfsTer?
NM_013987.3:c.1294del	NP_054642.2:p.Asp432ThrfsTer?
NM_013988.3:c.931del	NP_054643.2:p.Asp311ThrfsTer?