Canonical Allele Identifier: CA4289997

Gene: DNAJC30 BUD23

Linked Data

• dbSNP Id: rs782566033
• ExAC: 7:73097622 C / CATAAAGGGATGACATTACGGAGTAGGCCTTGTGCT
• MyVariant Identifiers: chr7:g.73097622_73097623insATAAAGGGATGACATTACGGAGTAGGCCTTGTGCT (hg19) ; chr7:g.73097623_73097624delinsATAAAGGGATGACATTACGGAGTAGGCCTTGTGCTGA (hg19) ; chr7:g.73683292_73683293insATAAAGGGATGACATTACGGAGTAGGCCTTGTGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683292_73683293insATAAAGGGATGACATTACGGAGTAGGCCTTGTGCT , CM000669.2:g.73683292_73683293insATAAAGGGATGACATTACGGAGTAGGCCTTGTGCT	GRCh38
NC_000007.13:g.73097622_73097623insATAAAGGGATGACATTACGGAGTAGGCCTTGTGCT , CM000669.1:g.73097622_73097623insATAAAGGGATGACATTACGGAGTAGGCCTTGTGCT	GRCh37
NC_000007.12:g.72735558_72735559insATAAAGGGATGACATTACGGAGTAGGCCTTGTGCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.131_132insAGCACAAGGCCTACTCCGTAATGTCATCCCTTTAT (DNAJC30) MANE Select	ENSP00000378605.1:p.Tyr45AlafsTer?
ENST00000395176.2:c.131_132insAGCACAAGGCCTACTCCGTAATGTCATCCCTTTAT (DNAJC30)	ENSP00000378605.1:p.Tyr45AlafsTer?
ENST00000464615.1:n.268_269insATAAAGGGATGACATTACGGAGTAGGCCTTGTGCT (BUD23)
NM_032317.2:c.131_132insAGCACAAGGCCTACTCCGTAATGTCATCCCTTTAT (DNAJC30)	NP_115693.2:p.Tyr45AlafsTer?
NM_032317.3:c.131_132insAGCACAAGGCCTACTCCGTAATGTCATCCCTTTAT (DNAJC30) MANE Select	NP_115693.2:p.Tyr45AlafsTer?