Canonical Allele Identifier: CA2776457791
Gene: DNAJC30 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.73682992_73682993insTGAAGGGGGTTCCTGGAGTCTCTAGGGTGCTTCTTCCAGAGTCTGTCTTCTTGCTTCCAGAT , CM000669.2:g.73682992_73682993insTGAAGGGGGTTCCTGGAGTCTCTAGGGTGCTTCTTCCAGAGTCTGTCTTCTTGCTTCCAGAT GRCh38
NC_000007.13:g.73097322_73097323insTGAAGGGGGTTCCTGGAGTCTCTAGGGTGCTTCTTCCAGAGTCTGTCTTCTTGCTTCCAGAT , CM000669.1:g.73097322_73097323insTGAAGGGGGTTCCTGGAGTCTCTAGGGTGCTTCTTCCAGAGTCTGTCTTCTTGCTTCCAGAT GRCh37
NC_000007.12:g.72735258_72735259insTGAAGGGGGTTCCTGGAGTCTCTAGGGTGCTTCTTCCAGAGTCTGTCTTCTTGCTTCCAGAT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395176.3:c.431_432insATCTGGAAGCAAGAAGACAGACTCTGGAAGAAGCACCCTAGAGACTCCAGGAACCCCCTTCA MANE Select ENSP00000378605.1:p.Arg146GlyfsTer?
ENST00000395176.2:c.431_432insATCTGGAAGCAAGAAGACAGACTCTGGAAGAAGCACCCTAGAGACTCCAGGAACCCCCTTCA ENSP00000378605.1:p.Arg146GlyfsTer?
NM_032317.2:c.431_432insATCTGGAAGCAAGAAGACAGACTCTGGAAGAAGCACCCTAGAGACTCCAGGAACCCCCTTCA NP_115693.2:p.Arg146GlyfsTer?
NM_032317.3:c.431_432insATCTGGAAGCAAGAAGACAGACTCTGGAAGAAGCACCCTAGAGACTCCAGGAACCCCCTTCA MANE Select NP_115693.2:p.Arg146GlyfsTer?