Canonical Allele Identifier: CA842010822
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs1375432941
gnomAD v3: 7-73683350-TGTGGAAAGCCACGG-T
gnomAD v4: 7-73683350-TGTGGAAAGCCACGG-T
MyVariant Identifiers: chr7:g.73683351_73683364del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683352_73683365del , CM000669.2:g.73683352_73683365del GRCh38
NC_000007.13:g.73097682_73097695del , CM000669.1:g.73097682_73097695del GRCh37
NC_000007.12:g.72735618_72735631del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.60_73del (DNAJC30) MANE Select ENSP00000378605.1:p.Arg21LysfsTer27
ENST00000395176.2:c.60_73del (DNAJC30) ENSP00000378605.1:p.Arg21LysfsTer27
ENST00000464615.1:n.328_341del (BUD23)
NM_032317.2:c.60_73del (DNAJC30) NP_115693.2:p.Arg21LysfsTer27
NM_032317.3:c.60_73del (DNAJC30) MANE Select NP_115693.2:p.Arg21LysfsTer27
Search 100 bp 5'
Search 100 bp 3'