Canonical Allele Identifier: CA4090512

Gene: PRKN

Linked Data

• ClinVar Variation Id: 425403
• ClinVar RCV Id: RCV000488202 ; RCV001449626 ; RCV001782974
• dbSNP Id: rs55777503
• ExAC: 6:162864410 CCT / C
• gnomAD v2: 6-162864410-CCT-C
• gnomAD v3: 6-162443378-CCT-C
• gnomAD v4: 6-162443378-CCT-C
• MyVariant Identifiers: chr6:g.162864411_162864412del (hg19) ; chr6:g.162443379_162443380del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.162443379_162443380del , CM000668.2:g.162443379_162443380del	GRCh38
NC_000006.11:g.162864411_162864412del , CM000668.1:g.162864411_162864412del	GRCh37
NC_000006.10:g.162784401_162784402del	NCBI36
NG_008289.1:g.289423_289424del
NG_008289.2:g.289423_289424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338468.8:c.101_102del	ENSP00000343589.4:p.Gln34ArgfsTer5
ENST00000366894.6:c.101_102del	ENSP00000355860.2:p.Gln34ArgfsTer5
ENST00000366898.6:c.101_102del MANE Select	ENSP00000355865.1:p.Gln34ArgfsTer5
ENST00000648830.1:n.268_269del
ENST00000673871.1:c.96_97del
ENST00000674232.1:n.119_120del
ENST00000674259.1:n.158_159del
ENST00000674493.1:n.118_119del
ENST00000674501.1:n.208_209del
ENST00000338468.7:c.-351_-350del	ENSP00000343589.3:n.-351_-350del
ENST00000366892.5:c.101_102del	ENSP00000355858.1:p.Gln34ArgfsTer5
ENST00000366894.5:c.-232_-231del	ENSP00000355860.1:n.-232_-231del
ENST00000366896.5:c.101_102del	ENSP00000355862.1:p.Gln34ArgfsTer5
ENST00000366897.5:c.101_102del	ENSP00000355863.1:p.Gln34ArgfsTer5
ENST00000366898.5:c.101_102del	ENSP00000355865.1:p.Gln34ArgfsTer5
ENST00000479615.5:c.-66-180615_-66-180614del	ENSP00000434414.1:n.-66-180615_-66-180614del
NM_004562.2:c.101_102del	NP_004553.2:p.Gln34ArgfsTer5
NM_013987.2:c.101_102del	NP_054642.2:p.Gln34ArgfsTer5
NM_013988.2:c.101_102del	NP_054643.2:p.Gln34ArgfsTer5
XM_011535863.1:c.101_102del	XP_011534165.1:p.Gln34ArgfsTer5
XM_011535864.1:c.101_102del	XP_011534166.1:p.Gln34ArgfsTer5
XM_011535865.1:c.101_102del	XP_011534167.1:p.Gln34ArgfsTer5
XM_011535866.1:c.101_102del	XP_011534168.1:p.Gln34ArgfsTer5
XM_011535867.1:c.101_102del	XP_011534169.1:p.Gln34ArgfsTer5
XM_017010908.1:c.215_216del	XP_016866397.1:p.Gln72ArgfsTer5
XM_017010909.2:c.-66-180615_-66-180614del	XP_016866398.1:n.-66-180615_-66-180614del
XM_024446449.1:c.-66-180615_-66-180614del	XP_024302217.1:n.-66-180615_-66-180614del
XR_001743443.2:n.207_208del
NM_004562.3:c.101_102del MANE Select	NP_004553.2:p.Gln34ArgfsTer5
NM_013987.3:c.101_102del	NP_054642.2:p.Gln34ArgfsTer5
NM_013988.3:c.101_102del	NP_054643.2:p.Gln34ArgfsTer5