Canonical Allele Identifier: CA259932
Gene: DNAJC5 HGNC NCBI

Linked Data

dbSNP Id: rs587776892
gnomAD v4: 20-63930870-GCCT-G
MyVariant Identifiers: chr20:g.62562228_62562230del (hg19) chr20:g.63930875_63930877del (hg38)
PubMed: PMID:5132971 PMID:12790899 PMID:21820099 PMID:22073189 PMID:22235333 PMID:22978711
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63930875_63930877del , CM000682.2:g.63930875_63930877del GRCh38
NC_000020.10:g.62562228_62562230del , CM000682.1:g.62562228_62562230del GRCh37
NC_000020.9:g.62032672_62032674del NCBI36
NG_029805.1:g.40774_40776del
NG_029805.2:g.40774_40776del

Transcript Alleles

HGVS Amino-acid change
ENST00000703637.1:c.346_348del ENSP00000515413.1:p.Leu116del
ENST00000360864.9:c.346_348del MANE Select ENSP00000354111.4:p.Leu116del
ENST00000360864.8:c.346_348del ENSP00000354111.4:p.Leu116del
ENST00000470551.1:c.346_348del ENSP00000434744.1:p.Leu116del
NM_025219.2:c.346_348del NP_079495.1:p.Leu116del
XM_011529048.1:c.346_348del XP_011527350.1:p.Leu116del
XM_011529049.1:c.346_348del XP_011527351.1:p.Leu116del
XM_011529050.1:c.346_348del XP_011527352.1:p.Leu116del
XR_936629.1:n.978_980del
XR_936630.1:n.1236_1238del
XM_011529048.2:c.346_348del XP_011527350.1:p.Leu116del
XR_936629.2:n.991_993del
NM_025219.3:c.346_348del MANE Select NP_079495.1:p.Leu116del
Search 100 bp 5'
Search 100 bp 3'