Canonical Allele Identifier: CA1717166368

Gene: DNAJC30 BUD23

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683201_73683203delinsGAA , CM000669.2:g.73683201_73683203delinsGAA	GRCh38
NC_000007.13:g.73097531_73097533delinsGAA , CM000669.1:g.73097531_73097533delinsGAA	GRCh37
NC_000007.12:g.72735467_72735469delinsGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.221_223delinsTTC (DNAJC30) MANE Select	ENSP00000378605.1:p.Phe74=
ENST00000395176.2:c.221_223delinsTTC (DNAJC30)	ENSP00000378605.1:p.Phe74=
ENST00000464615.1:n.177_179delinsGAA (BUD23)
NM_032317.2:c.221_223delinsTTC (DNAJC30)	NP_115693.2:p.Phe74=
NM_032317.3:c.221_223delinsTTC (DNAJC30) MANE Select	NP_115693.2:p.Phe74=