Canonical Allele Identifier: CA571703738

Gene: PRKN

Linked Data

• dbSNP Id: rs949516613
• gnomAD v2: 6-161771035-C-CGT
• gnomAD v3: 6-161350003-C-CGT
• gnomAD v4: 6-161350003-C-CGT
• MyVariant Identifiers: chr6:g.161771037_161771038insGT (hg19) ; chr6:g.161771035_161771036insGT (hg19) ; chr6:g.161350005_161350006insGT (hg38) ; chr6:g.161350003_161350004insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.161350016_161350017dup , CM000668.2:g.161350016_161350017dup	GRCh38
NC_000006.11:g.161771048_161771049dup , CM000668.1:g.161771048_161771049dup	GRCh37
NC_000006.10:g.161691038_161691039dup	NCBI36
NG_008289.1:g.1382798_1382799dup
NG_008289.2:g.1382798_1382799dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366898.6:c.*94_*95dup MANE Select	ENSP00000355865.1:n.*94_*95dup
ENST00000673871.1:c.1573_1574dup
ENST00000674006.1:n.877_878dup
ENST00000674436.1:n.1128_1129dup
ENST00000366896.5:c.*94_*95dup	ENSP00000355862.1:n.*94_*95dup
ENST00000366897.5:c.*94_*95dup	ENSP00000355863.1:n.*94_*95dup
ENST00000366898.5:c.*94_*95dup	ENSP00000355865.1:n.*94_*95dup
NM_004562.2:c.*94_*95dup	NP_004553.2:n.*94_*95dup
NM_013987.2:c.*94_*95dup	NP_054642.2:n.*94_*95dup
NM_013988.2:c.*94_*95dup	NP_054643.2:n.*94_*95dup
XM_011535863.1:c.*94_*95dup	XP_011534165.1:n.*94_*95dup
XM_017010908.1:c.*94_*95dup	XP_016866397.1:n.*94_*95dup
XM_017010909.2:c.*94_*95dup	XP_016866398.1:n.*94_*95dup
XM_024446449.1:c.*94_*95dup	XP_024302217.1:n.*94_*95dup
XR_001743443.2:n.1684_1685dup
NM_004562.3:c.*94_*95dup MANE Select	NP_004553.2:n.*94_*95dup
NM_013987.3:c.*94_*95dup	NP_054642.2:n.*94_*95dup
NM_013988.3:c.*94_*95dup	NP_054643.2:n.*94_*95dup