Canonical Allele Identifier: CA636373855
Gene: DNAJC5 HGNC NCBI

Linked Data

ClinVar Variation Id: 516418
ClinVar RCV Id: RCV000601142
dbSNP Id: rs917983556
gnomAD v2: 20-62526650-A-AGGGC
gnomAD v3: 20-63895297-A-AGGGC
gnomAD v4: 20-63895297-A-AGGGC
MyVariant Identifiers: chr20:g.62526665_62526668dup (hg19) chr20:g.62526654_62526655insGGGC (hg19) chr20:g.62526650_62526651insGGGC (hg19) chr20:g.63895312_63895315dup (hg38) chr20:g.63895301_63895302insGGGC (hg38) chr20:g.63895297_63895298insGGGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63895312_63895315dup , CM000682.2:g.63895312_63895315dup GRCh38
NC_000020.10:g.62526665_62526668dup , CM000682.1:g.62526665_62526668dup GRCh37
NC_000020.9:g.61997109_61997112dup NCBI36
NG_029805.1:g.5211_5214dup
NG_029805.2:g.5211_5214dup

Transcript Alleles

HGVS Amino-acid change
ENST00000360864.9:c.-23_-20dup MANE Select ENSP00000354111.4:n.-23_-20dup
ENST00000360864.8:c.-23_-20dup ENSP00000354111.4:n.-23_-20dup
ENST00000470551.1:c.-23_-20dup ENSP00000434744.1:n.-23_-20dup
NM_025219.2:c.-23_-20dup NP_079495.1:n.-23_-20dup
NM_025219.3:c.-23_-20dup MANE Select NP_079495.1:n.-23_-20dup
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