Canonical Allele Identifier: CA2683240313

Gene: DNAJC30

Linked Data

• gnomAD v4: 7-73683018-C-CGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683021_73683022dup , CM000669.2:g.73683021_73683022dup	GRCh38
NC_000007.13:g.73097351_73097352dup , CM000669.1:g.73097351_73097352dup	GRCh37
NC_000007.12:g.72735287_72735288dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.404_405dup MANE Select	ENSP00000378605.1:p.Gly136ProfsTer?
ENST00000395176.2:c.404_405dup	ENSP00000378605.1:p.Gly136ProfsTer?
NM_032317.2:c.404_405dup	NP_115693.2:p.Gly136ProfsTer?
NM_032317.3:c.404_405dup MANE Select	NP_115693.2:p.Gly136ProfsTer?