Canonical Allele Identifier: CA1717166336

Gene: DNAJC30 BUD23

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683141_73683142delinsAG , CM000669.2:g.73683141_73683142delinsAG	GRCh38
NC_000007.13:g.73097471_73097472delinsAG , CM000669.1:g.73097471_73097472delinsAG	GRCh37
NC_000007.12:g.72735407_72735408delinsAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.282_283delinsCT (DNAJC30) MANE Select	ENSP00000378605.1:p.Ile94=
ENST00000395176.2:c.282_283delinsCT (DNAJC30)	ENSP00000378605.1:p.Ile94=
ENST00000464615.1:n.117_118delinsAG (BUD23)
NM_032317.2:c.282_283delinsCT (DNAJC30)	NP_115693.2:p.Ile94=
NM_032317.3:c.282_283delinsCT (DNAJC30) MANE Select	NP_115693.2:p.Ile94=