Canonical Allele Identifier: CA1717166411

Gene: DNAJC30 BUD23

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683292_73683294delinsCGA , CM000669.2:g.73683292_73683294delinsCGA	GRCh38
NC_000007.13:g.73097622_73097624delinsCGA , CM000669.1:g.73097622_73097624delinsCGA	GRCh37
NC_000007.12:g.72735558_72735560delinsCGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.130_132delinsTCG (DNAJC30) MANE Select	ENSP00000378605.1:p.Ser44=
ENST00000395176.2:c.130_132delinsTCG (DNAJC30)	ENSP00000378605.1:p.Ser44=
ENST00000464615.1:n.268_270delinsCGA (BUD23)
NM_032317.2:c.130_132delinsTCG (DNAJC30)	NP_115693.2:p.Ser44=
NM_032317.3:c.130_132delinsTCG (DNAJC30) MANE Select	NP_115693.2:p.Ser44=