Canonical Allele Identifier: CA1717166288

Gene: DNAJC30 BUD23

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683045_73683046delinsGC , CM000669.2:g.73683045_73683046delinsGC	GRCh38
NC_000007.13:g.73097375_73097376delinsGC , CM000669.1:g.73097375_73097376delinsGC	GRCh37
NC_000007.12:g.72735311_72735312delinsGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.378_379delinsGC (DNAJC30) MANE Select	ENSP00000378605.1:p.Arg126=
ENST00000395176.2:c.378_379delinsGC (DNAJC30)	ENSP00000378605.1:p.Arg126=
ENST00000464615.1:n.21_22delinsGC (BUD23)
NM_032317.2:c.378_379delinsGC (DNAJC30)	NP_115693.2:p.Arg126=
NM_032317.3:c.378_379delinsGC (DNAJC30) MANE Select	NP_115693.2:p.Arg126=