Canonical Allele Identifier: CA1717166463

Gene: DNAJC30 BUD23

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.73683389_73683390delinsAG , CM000669.2:g.73683389_73683390delinsAG	GRCh38
NC_000007.13:g.73097719_73097720delinsAG , CM000669.1:g.73097719_73097720delinsAG	GRCh37
NC_000007.12:g.72735655_72735656delinsAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395176.3:c.34_35delinsCT (DNAJC30) MANE Select	ENSP00000378605.1:p.Leu12=
ENST00000395176.2:c.34_35delinsCT (DNAJC30)	ENSP00000378605.1:p.Leu12=
ENST00000464615.1:n.359+6_359+7delinsAG (BUD23)
NM_032317.2:c.34_35delinsCT (DNAJC30)	NP_115693.2:p.Leu12=
NM_032317.3:c.34_35delinsCT (DNAJC30) MANE Select	NP_115693.2:p.Leu12=