Canonical Allele Identifier: CA4089924

Gene: PRKN

Linked Data

• dbSNP Id: rs779138830
• ExAC: 6:161771149 G / GT
• gnomAD v2: 6-161771149-G-GT
• gnomAD v4: 6-161350117-G-GT
• MyVariant Identifiers: chr6:g.161771149_161771150insT (hg19) ; chr6:g.161350117_161350118insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350118dup , CM000668.2:g.161350118dup	GRCh38
NC_000006.11:g.161771150dup , CM000668.1:g.161771150dup	GRCh37
NC_000006.10:g.161691140dup	NCBI36
NG_008289.1:g.1382685dup
NG_008289.2:g.1382685dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.1257dup	ENSP00000343589.4:n.1257dup
ENST00000366894.6:c.1138dup	ENSP00000355860.2:n.1138dup
ENST00000366898.6:c.1379dup MANE Select	ENSP00000355865.1:p.Asp460GlufsTer?
ENST00000673871.1:c.1460dup
ENST00000674006.1:n.764dup
ENST00000674436.1:n.1015dup
ENST00000338468.7:c.806dup	ENSP00000343589.3:p.Asp269GlufsTer?
ENST00000366894.5:c.806dup	ENSP00000355860.1:p.Asp269GlufsTer?
ENST00000366896.5:c.932dup	ENSP00000355862.1:p.Asp311GlufsTer?
ENST00000366897.5:c.1295dup	ENSP00000355863.1:p.Asp432GlufsTer?
ENST00000366898.5:c.1379dup	ENSP00000355865.1:p.Asp460GlufsTer?
ENST00000479615.5:c.*155dup	ENSP00000434414.1:n.*155dup
ENST00000610470.4:c.512dup	ENSP00000483773.1:p.Asp171GlufsTer?
NM_004562.2:c.1379dup	NP_004553.2:p.Asp460GlufsTer?
NM_013987.2:c.1295dup	NP_054642.2:p.Asp432GlufsTer?
NM_013988.2:c.932dup	NP_054643.2:p.Asp311GlufsTer?
XM_011535863.1:c.1376dup	XP_011534165.1:p.Asp459GlufsTer?
XM_017010908.1:c.1493dup	XP_016866397.1:p.Asp498GlufsTer?
XM_017010909.2:c.1139dup	XP_016866398.1:p.Asp380GlufsTer?
XM_024446449.1:c.1142dup	XP_024302217.1:p.Asp381GlufsTer?
XR_001743443.2:n.1571dup
NM_004562.3:c.1379dup MANE Select	NP_004553.2:p.Asp460GlufsTer?
NM_013987.3:c.1295dup	NP_054642.2:p.Asp432GlufsTer?
NM_013988.3:c.932dup	NP_054643.2:p.Asp311GlufsTer?