Canonical Allele Identifier: CA1139659944

Gene: PRKN

Linked Data

• ClinVar Variation Id: 871035
• ClinVar RCV Id: RCV001090782
• dbSNP Id: rs1790151629

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162443331_162443343del , CM000668.2:g.162443331_162443343del	GRCh38
NC_000006.11:g.162864363_162864375del , CM000668.1:g.162864363_162864375del	GRCh37
NC_000006.10:g.162784353_162784365del	NCBI36
NG_008289.1:g.289463_289475del
NG_008289.2:g.289463_289475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.141_153del	ENSP00000343589.4:p.Lys48MetfsTer29
ENST00000366894.6:c.141_153del	ENSP00000355860.2:p.Lys48MetfsTer8
ENST00000366898.6:c.141_153del MANE Select	ENSP00000355865.1:p.Lys48MetfsTer29
ENST00000648830.1:n.308_320del
ENST00000673871.1:c.136_148del
ENST00000674232.1:n.159_171del
ENST00000674259.1:n.198_210del
ENST00000674493.1:n.158_170del
ENST00000674501.1:n.248_260del
ENST00000338468.7:c.-311_-299del	ENSP00000343589.3:n.-311_-299del
ENST00000366892.5:c.141_153del	ENSP00000355858.1:p.Lys48MetfsTer29
ENST00000366894.5:c.-192_-180del	ENSP00000355860.1:n.-192_-180del
ENST00000366896.5:c.141_153del	ENSP00000355862.1:p.Lys48MetfsTer24
ENST00000366897.5:c.141_153del	ENSP00000355863.1:p.Lys48MetfsTer29
ENST00000366898.5:c.141_153del	ENSP00000355865.1:p.Lys48MetfsTer29
ENST00000479615.5:c.-66-180575_-66-180563del	ENSP00000434414.1:n.-66-180575_-66-180563del
NM_004562.2:c.141_153del	NP_004553.2:p.Lys48MetfsTer29
NM_013987.2:c.141_153del	NP_054642.2:p.Lys48MetfsTer29
NM_013988.2:c.141_153del	NP_054643.2:p.Lys48MetfsTer24
XM_011535863.1:c.141_153del	XP_011534165.1:p.Lys48MetfsTer29
XM_011535864.1:c.141_153del	XP_011534166.1:p.Lys48MetfsTer29
XM_011535865.1:c.141_153del	XP_011534167.1:p.Lys48MetfsTer29
XM_011535866.1:c.141_153del	XP_011534168.1:p.Lys48MetfsTer29
XM_011535867.1:c.141_153del	XP_011534169.1:p.Lys48MetfsTer29
XM_017010908.1:c.255_267del	XP_016866397.1:p.Lys86MetfsTer29
XM_017010909.2:c.-66-180575_-66-180563del	XP_016866398.1:n.-66-180575_-66-180563del
XM_024446449.1:c.-66-180575_-66-180563del	XP_024302217.1:n.-66-180575_-66-180563del
XR_001743443.2:n.247_259del
NM_004562.3:c.141_153del MANE Select	NP_004553.2:p.Lys48MetfsTer29
NM_013987.3:c.141_153del	NP_054642.2:p.Lys48MetfsTer29
NM_013988.3:c.141_153del	NP_054643.2:p.Lys48MetfsTer24