Canonical Allele Identifier: CA1103051205
Gene: DNAJC30 HGNC NCBI

Linked Data

dbSNP Id: rs1797764235
gnomAD v3: 7-73682998-C-CGGCGGGGTACGCGGCGA
gnomAD v4: 7-73682998-C-CGGCGGGGTACGCGGCGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683000_73683016dup , CM000669.2:g.73683000_73683016dup GRCh38
NC_000007.13:g.73097330_73097346dup , CM000669.1:g.73097330_73097346dup GRCh37
NC_000007.12:g.72735266_72735282dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.409_425dup MANE Select ENSP00000378605.1:p.Pro143ArgfsTer?
ENST00000395176.2:c.409_425dup ENSP00000378605.1:p.Pro143ArgfsTer?
NM_032317.2:c.409_425dup NP_115693.2:p.Pro143ArgfsTer?
NM_032317.3:c.409_425dup MANE Select NP_115693.2:p.Pro143ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'