Canonical Allele Identifier: CA4090485

Gene: PRKN

Linked Data

• ClinVar Variation Id: 1650997
• ClinVar RCV Id: RCV002151460
• dbSNP Id: rs529531705
• ExAC: 6:162864321 CG / C
• gnomAD v2: 6-162864321-CG-C
• gnomAD v3: 6-162443289-CG-C
• gnomAD v4: 6-162443289-CG-C
• MyVariant Identifiers: chr6:g.162864322del (hg19) ; chr6:g.162443290del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162443291del , CM000668.2:g.162443291del	GRCh38
NC_000006.11:g.162864323del , CM000668.1:g.162864323del	GRCh37
NC_000006.10:g.162784313del	NCBI36
NG_008289.1:g.289513del
NG_008289.2:g.289513del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.171+20del	ENSP00000343589.4:n.171+20del
ENST00000366894.6:c.171+20del	ENSP00000355860.2:n.171+20del
ENST00000366898.6:c.171+20del MANE Select	ENSP00000355865.1:n.171+20del
ENST00000673871.1:c.166+20del
ENST00000674232.1:n.189+20del
ENST00000674259.1:n.228+20del
ENST00000674493.1:n.188+20del
ENST00000674501.1:n.278+20del
ENST00000338468.7:c.-281+20del	ENSP00000343589.3:n.-281+20del
ENST00000366892.5:c.171+20del	ENSP00000355858.1:n.171+20del
ENST00000366894.5:c.-162+20del	ENSP00000355860.1:n.-162+20del
ENST00000366896.5:c.171+20del	ENSP00000355862.1:n.171+20del
ENST00000366897.5:c.171+20del	ENSP00000355863.1:n.171+20del
ENST00000366898.5:c.171+20del	ENSP00000355865.1:n.171+20del
ENST00000479615.5:c.-66-180525del	ENSP00000434414.1:n.-66-180525del
NM_004562.2:c.171+20del	NP_004553.2:n.171+20del
NM_013987.2:c.171+20del	NP_054642.2:n.171+20del
NM_013988.2:c.171+20del	NP_054643.2:n.171+20del
XM_011535863.1:c.171+20del	XP_011534165.1:n.171+20del
XM_011535864.1:c.171+20del	XP_011534166.1:n.171+20del
XM_011535865.1:c.171+20del	XP_011534167.1:n.171+20del
XM_011535866.1:c.171+20del	XP_011534168.1:n.171+20del
XM_011535867.1:c.171+20del	XP_011534169.1:n.171+20del
XM_017010908.1:c.285+20del	XP_016866397.1:n.285+20del
XM_017010909.2:c.-66-180525del	XP_016866398.1:n.-66-180525del
XM_024446449.1:c.-66-180525del	XP_024302217.1:n.-66-180525del
XR_001743443.2:n.277+20del
NM_004562.3:c.171+20del MANE Select	NP_004553.2:n.171+20del
NM_013987.3:c.171+20del	NP_054642.2:n.171+20del
NM_013988.3:c.171+20del	NP_054643.2:n.171+20del