Canonical Allele Identifier: CA2776457787
Gene: DNAJC30 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682989_73682990insAAAGCCCAG , CM000669.2:g.73682989_73682990insAAAGCCCAG GRCh38
NC_000007.13:g.73097319_73097320insAAAGCCCAG , CM000669.1:g.73097319_73097320insAAAGCCCAG GRCh37
NC_000007.12:g.72735255_72735256insAAAGCCCAG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.434_435insCTGGGCTTT MANE Select ENSP00000378605.1:p.Ser145_Arg146insTrpAlaPhe
ENST00000395176.2:c.434_435insCTGGGCTTT ENSP00000378605.1:p.Ser145_Arg146insTrpAlaPhe
NM_032317.2:c.434_435insCTGGGCTTT NP_115693.2:p.Ser145_Arg146insTrpAlaPhe
NM_032317.3:c.434_435insCTGGGCTTT MANE Select NP_115693.2:p.Ser145_Arg146insTrpAlaPhe