Canonical Allele Identifier: CA842009851
Gene: DNAJC30 HGNC NCBI

Linked Data

dbSNP Id: rs1187764404
gnomAD v3: 7-73683001-CG-C
gnomAD v4: 7-73683001-CG-C
MyVariant Identifiers: chr7:g.73683002del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683005del , CM000669.2:g.73683005del GRCh38
NC_000007.13:g.73097335del , CM000669.1:g.73097335del GRCh37
NC_000007.12:g.72735271del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.422del MANE Select ENSP00000378605.1:p.Pro141ArgfsTer?
ENST00000395176.2:c.422del ENSP00000378605.1:p.Pro141ArgfsTer?
NM_032317.2:c.422del NP_115693.2:p.Pro141ArgfsTer?
NM_032317.3:c.422del MANE Select NP_115693.2:p.Pro141ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'