Canonical Allele Identifier: CA1717166370
Gene: DNAJC30 HGNC NCBI
BUD23 HGNC NCBI

Linked Data

dbSNP Id: rs1797775134
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73683203_73683204del , CM000669.2:g.73683203_73683204del GRCh38
NC_000007.13:g.73097533_73097534del , CM000669.1:g.73097533_73097534del GRCh37
NC_000007.12:g.72735469_72735470del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.221_222del (DNAJC30) MANE Select ENSP00000378605.1:p.Phe74SerfsTer?
ENST00000395176.2:c.221_222del (DNAJC30) ENSP00000378605.1:p.Phe74SerfsTer?
ENST00000464615.1:n.179_180del (BUD23)
NM_032317.2:c.221_222del (DNAJC30) NP_115693.2:p.Phe74SerfsTer?
NM_032317.3:c.221_222del (DNAJC30) MANE Select NP_115693.2:p.Phe74SerfsTer?
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