Canonical Allele Identifier: CA4090513

Gene: PRKN

Linked Data

• ClinVar Variation Id: 810636
• ClinVar RCV Id: RCV001030787
• dbSNP Id: rs748142049
• ExAC: 6:162864411 CT / C
• gnomAD v2: 6-162864411-CT-C
• gnomAD v4: 6-162443379-CT-C
• MyVariant Identifiers: chr6:g.162864412del (hg19) ; chr6:g.162443380del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162443380del , CM000668.2:g.162443380del	GRCh38
NC_000006.11:g.162864412del , CM000668.1:g.162864412del	GRCh37
NC_000006.10:g.162784402del	NCBI36
NG_008289.1:g.289423del
NG_008289.2:g.289423del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.101del	ENSP00000343589.4:p.Gln34ArgfsTer10
ENST00000366894.6:c.101del	ENSP00000355860.2:p.Gln34ArgfsTer10
ENST00000366898.6:c.101del MANE Select	ENSP00000355865.1:p.Gln34ArgfsTer10
ENST00000648830.1:n.268del
ENST00000673871.1:c.96del
ENST00000674232.1:n.119del
ENST00000674259.1:n.158del
ENST00000674493.1:n.118del
ENST00000674501.1:n.208del
ENST00000338468.7:c.-351del	ENSP00000343589.3:n.-351del
ENST00000366892.5:c.101del	ENSP00000355858.1:p.Gln34ArgfsTer10
ENST00000366894.5:c.-232del	ENSP00000355860.1:n.-232del
ENST00000366896.5:c.101del	ENSP00000355862.1:p.Gln34ArgfsTer10
ENST00000366897.5:c.101del	ENSP00000355863.1:p.Gln34ArgfsTer10
ENST00000366898.5:c.101del	ENSP00000355865.1:p.Gln34ArgfsTer10
ENST00000479615.5:c.-66-180615del	ENSP00000434414.1:n.-66-180615del
NM_004562.2:c.101del	NP_004553.2:p.Gln34ArgfsTer10
NM_013987.2:c.101del	NP_054642.2:p.Gln34ArgfsTer10
NM_013988.2:c.101del	NP_054643.2:p.Gln34ArgfsTer10
XM_011535863.1:c.101del	XP_011534165.1:p.Gln34ArgfsTer10
XM_011535864.1:c.101del	XP_011534166.1:p.Gln34ArgfsTer10
XM_011535865.1:c.101del	XP_011534167.1:p.Gln34ArgfsTer10
XM_011535866.1:c.101del	XP_011534168.1:p.Gln34ArgfsTer10
XM_011535867.1:c.101del	XP_011534169.1:p.Gln34ArgfsTer10
XM_017010908.1:c.215del	XP_016866397.1:p.Gln72ArgfsTer10
XM_017010909.2:c.-66-180615del	XP_016866398.1:n.-66-180615del
XM_024446449.1:c.-66-180615del	XP_024302217.1:n.-66-180615del
XR_001743443.2:n.207del
NM_004562.3:c.101del MANE Select	NP_004553.2:p.Gln34ArgfsTer10
NM_013987.3:c.101del	NP_054642.2:p.Gln34ArgfsTer10
NM_013988.3:c.101del	NP_054643.2:p.Gln34ArgfsTer10