Canonical Allele Identifier: CA575783328
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs1554611658
gnomAD v2: 7-73097375-GC-G
gnomAD v3: 7-73683045-GC-G
gnomAD v4: 7-73683045-GC-G
MyVariant Identifiers: chr7:g.73097376del (hg19) chr7:g.73683046del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683047del , CM000669.2:g.73683047del GRCh38
NC_000007.13:g.73097377del , CM000669.1:g.73097377del GRCh37
NC_000007.12:g.72735313del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.378del (DNAJC30) MANE Select ENSP00000378605.1:p.Ser128ProfsTer?
ENST00000395176.2:c.378del (DNAJC30) ENSP00000378605.1:p.Ser128ProfsTer?
ENST00000464615.1:n.23del (BUD23)
NM_032317.2:c.378del (DNAJC30) NP_115693.2:p.Ser128ProfsTer?
NM_032317.3:c.378del (DNAJC30) MANE Select NP_115693.2:p.Ser128ProfsTer?
Search 100 bp 5'
Search 100 bp 3'