Canonical Allele Identifier: CA1717166374

Gene: DNAJC30 BUD23

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683209_73683216delinsTGACGGTA , CM000669.2:g.73683209_73683216delinsTGACGGTA	GRCh38
NC_000007.13:g.73097539_73097546delinsTGACGGTA , CM000669.1:g.73097539_73097546delinsTGACGGTA	GRCh37
NC_000007.12:g.72735475_72735482delinsTGACGGTA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.208_215delinsTACCGTCA (DNAJC30) MANE Select	ENSP00000378605.1:p.Tyr70=
ENST00000395176.2:c.208_215delinsTACCGTCA (DNAJC30)	ENSP00000378605.1:p.Tyr70=
ENST00000464615.1:n.185_192delinsTGACGGTA (BUD23)
NM_032317.2:c.208_215delinsTACCGTCA (DNAJC30)	NP_115693.2:p.Tyr70=
NM_032317.3:c.208_215delinsTACCGTCA (DNAJC30) MANE Select	NP_115693.2:p.Tyr70=