Canonical Allele Identifier: CA2683240312
Gene: DNAJC30 HGNC NCBI

Linked Data

gnomAD v4: 7-73682996-GGCGGCGGGGTAC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683003_73683014del , CM000669.2:g.73683003_73683014del GRCh38
NC_000007.13:g.73097333_73097344del , CM000669.1:g.73097333_73097344del GRCh37
NC_000007.12:g.72735269_72735280del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.416_427del MANE Select ENSP00000378605.1:p.Arg139_Pro142del
ENST00000395176.2:c.416_427del ENSP00000378605.1:p.Arg139_Pro142del
NM_032317.2:c.416_427del NP_115693.2:p.Arg139_Pro142del
NM_032317.3:c.416_427del MANE Select NP_115693.2:p.Arg139_Pro142del
Search 100 bp 5'
Search 100 bp 3'