Canonical Allele Identifier: CA151429461

Gene: PRKN

Linked Data

• dbSNP Id: rs949516613
• gnomAD v2: 6-161771035-CGT-C
• gnomAD v3: 6-161350003-CGT-C
• gnomAD v4: 6-161350003-CGT-C
• COSMIC: COSN17146928 ; COSN17150506
• MyVariant Identifiers: chr6:g.161771036_161771037del (hg19) ; chr6:g.161350004_161350005del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350016_161350017del , CM000668.2:g.161350016_161350017del	GRCh38
NC_000006.11:g.161771048_161771049del , CM000668.1:g.161771048_161771049del	GRCh37
NC_000006.10:g.161691038_161691039del	NCBI36
NG_008289.1:g.1382798_1382799del
NG_008289.2:g.1382798_1382799del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366898.6:c.*94_*95del MANE Select	ENSP00000355865.1:n.*94_*95del
ENST00000673871.1:c.1573_1574del
ENST00000674006.1:n.877_878del
ENST00000674436.1:n.1128_1129del
ENST00000366896.5:c.*94_*95del	ENSP00000355862.1:n.*94_*95del
ENST00000366897.5:c.*94_*95del	ENSP00000355863.1:n.*94_*95del
ENST00000366898.5:c.*94_*95del	ENSP00000355865.1:n.*94_*95del
NM_004562.2:c.*94_*95del	NP_004553.2:n.*94_*95del
NM_013987.2:c.*94_*95del	NP_054642.2:n.*94_*95del
NM_013988.2:c.*94_*95del	NP_054643.2:n.*94_*95del
XM_011535863.1:c.*94_*95del	XP_011534165.1:n.*94_*95del
XM_017010908.1:c.*94_*95del	XP_016866397.1:n.*94_*95del
XM_017010909.2:c.*94_*95del	XP_016866398.1:n.*94_*95del
XM_024446449.1:c.*94_*95del	XP_024302217.1:n.*94_*95del
XR_001743443.2:n.1684_1685del
NM_004562.3:c.*94_*95del MANE Select	NP_004553.2:n.*94_*95del
NM_013987.3:c.*94_*95del	NP_054642.2:n.*94_*95del
NM_013988.3:c.*94_*95del	NP_054643.2:n.*94_*95del