Canonical Allele Identifier: CA1717166497

Gene: DNAJC30 BUD23

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683425_73683428delinsTTGA , CM000669.2:g.73683425_73683428delinsTTGA	GRCh38
NC_000007.13:g.73097755_73097758delinsTTGA , CM000669.1:g.73097755_73097758delinsTTGA	GRCh37
NC_000007.12:g.72735691_72735694delinsTTGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.-5_-2delinsTCAA (DNAJC30) MANE Select	ENSP00000378605.1:n.-5_-2delinsTCAA
ENST00000395176.2:c.-5_-2delinsTCAA (DNAJC30)	ENSP00000378605.1:n.-5_-2delinsTCAA
ENST00000464615.1:n.359+42_359+45delinsTTGA (BUD23)
NM_032317.2:c.-5_-2delinsTCAA (DNAJC30)	NP_115693.2:n.-5_-2delinsTCAA
NM_032317.3:c.-5_-2delinsTCAA (DNAJC30) MANE Select	NP_115693.2:n.-5_-2delinsTCAA