Canonical Allele Identifier: CA821817802

Gene: PRKN

Linked Data

• dbSNP Id: rs1259697145
• gnomAD v3: 6-162443609-C-CA
• gnomAD v4: 6-162443609-C-CA
• MyVariant Identifiers: chr6:g.162864641_162864642insA (hg19) ; chr6:g.162443609_162443610insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162443615dup , CM000668.2:g.162443615dup	GRCh38
NC_000006.11:g.162864647dup , CM000668.1:g.162864647dup	GRCh37
NC_000006.10:g.162784637dup	NCBI36
NG_008289.1:g.289193dup
NG_008289.2:g.289193dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.8-137dup	ENSP00000343589.4:n.8-137dup
ENST00000366894.6:c.8-137dup	ENSP00000355860.2:n.8-137dup
ENST00000366898.6:c.8-137dup MANE Select	ENSP00000355865.1:n.8-137dup
ENST00000648830.1:n.175-137dup
ENST00000674232.1:n.26-137dup
ENST00000674259.1:n.65-137dup
ENST00000674493.1:n.25-137dup
ENST00000674501.1:n.115-137dup
ENST00000338468.7:c.-444-137dup	ENSP00000343589.3:n.-444-137dup
ENST00000366892.5:c.8-137dup	ENSP00000355858.1:n.8-137dup
ENST00000366894.5:c.-325-137dup	ENSP00000355860.1:n.-325-137dup
ENST00000366896.5:c.8-137dup	ENSP00000355862.1:n.8-137dup
ENST00000366897.5:c.8-137dup	ENSP00000355863.1:n.8-137dup
ENST00000366898.5:c.8-137dup	ENSP00000355865.1:n.8-137dup
ENST00000479615.5:c.-66-180845dup	ENSP00000434414.1:n.-66-180845dup
NM_004562.2:c.8-137dup	NP_004553.2:n.8-137dup
NM_013987.2:c.8-137dup	NP_054642.2:n.8-137dup
NM_013988.2:c.8-137dup	NP_054643.2:n.8-137dup
XM_011535863.1:c.8-137dup	XP_011534165.1:n.8-137dup
XM_011535864.1:c.8-137dup	XP_011534166.1:n.8-137dup
XM_011535865.1:c.8-137dup	XP_011534167.1:n.8-137dup
XM_011535866.1:c.8-137dup	XP_011534168.1:n.8-137dup
XM_011535867.1:c.8-137dup	XP_011534169.1:n.8-137dup
XM_017010908.1:c.122-137dup	XP_016866397.1:n.122-137dup
XM_017010909.2:c.-66-180845dup	XP_016866398.1:n.-66-180845dup
XM_024446449.1:c.-66-180845dup	XP_024302217.1:n.-66-180845dup
XR_001743443.2:n.114-137dup
NM_004562.3:c.8-137dup MANE Select	NP_004553.2:n.8-137dup
NM_013987.3:c.8-137dup	NP_054642.2:n.8-137dup
NM_013988.3:c.8-137dup	NP_054643.2:n.8-137dup