Canonical Allele Identifier: CA913109833

Gene: PRKN

Linked Data

• ClinVar Variation Id: 1972564
• ClinVar RCV Id: RCV002730607
• MyVariant Identifiers: chr6:g.161771177del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350145del , CM000668.2:g.161350145del	GRCh38
NC_000006.11:g.161771177del , CM000668.1:g.161771177del	GRCh37
NC_000006.10:g.161691167del	NCBI36
NG_008289.1:g.1382658del
NG_008289.2:g.1382658del

Transcript Alleles

HGVS	Amino-acid change
ENST00000338468.8:c.1230del	ENSP00000343589.4:n.1230del
ENST00000366894.6:c.1111del	ENSP00000355860.2:n.1111del
ENST00000366898.6:c.1352del MANE Select	ENSP00000355865.1:p.Cys451SerfsTer?
ENST00000673871.1:c.1433del
ENST00000674006.1:n.737del
ENST00000674436.1:n.988del
ENST00000338468.7:c.779del	ENSP00000343589.3:p.Cys260SerfsTer?
ENST00000366894.5:c.779del	ENSP00000355860.1:p.Cys260SerfsTer?
ENST00000366896.5:c.905del	ENSP00000355862.1:p.Cys302SerfsTer?
ENST00000366897.5:c.1268del	ENSP00000355863.1:p.Cys423SerfsTer?
ENST00000366898.5:c.1352del	ENSP00000355865.1:p.Cys451SerfsTer?
ENST00000479615.5:c.*128del	ENSP00000434414.1:n.*128del
ENST00000610470.4:c.485del	ENSP00000483773.1:p.Cys162SerfsTer?
NM_004562.2:c.1352del	NP_004553.2:p.Cys451SerfsTer?
NM_013987.2:c.1268del	NP_054642.2:p.Cys423SerfsTer?
NM_013988.2:c.905del	NP_054643.2:p.Cys302SerfsTer?
XM_011535863.1:c.1349del	XP_011534165.1:p.Cys450SerfsTer?
XM_017010908.1:c.1466del	XP_016866397.1:p.Cys489SerfsTer?
XM_017010909.2:c.1112del	XP_016866398.1:p.Cys371SerfsTer?
XM_024446449.1:c.1115del	XP_024302217.1:p.Cys372SerfsTer?
XR_001743443.2:n.1544del
NM_004562.3:c.1352del MANE Select	NP_004553.2:p.Cys451SerfsTer?
NM_013987.3:c.1268del	NP_054642.2:p.Cys423SerfsTer?
NM_013988.3:c.905del	NP_054643.2:p.Cys302SerfsTer?