Canonical Allele Identifier: CA2825001252
Community Standard Title: NM_181426.2(CCDC39):c.1452del (p.Ile484MetfsTer?)
Gene: CCDC39 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180647155del , CM000665.2:g.180647155del GRCh38
NC_000003.11:g.180364943del , CM000665.1:g.180364943del GRCh37
NC_000003.10:g.181847637del NCBI36
NG_029581.1:g.37342del

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.1452del MANE Select NP_852091.1:p.Ile484MetfsTer?
ENST00000476379.6:c.1452del MANE Select ENSP00000417960.2:p.Ile484MetfsTer?
NM_181426.1:c.1452del NP_852091.1:p.Ile484MetfsTer?
ENST00000442201.6:c.1452del ENSP00000405708.2:p.Ile484MetfsTer?
ENST00000476379.5:c.1452del ENSP00000417960.1:p.Ile484MetfsTer?
ENST00000650641.1:n.1339del
ENST00000650889.1:n.1843del
ENST00000651046.1:c.1260del ENSP00000499175.1:p.Ile420MetfsTer?
ENST00000651818.1:n.1402del
ENST00000651922.1:n.777del
ENST00000652024.1:n.1351del
ENST00000652408.1:n.1589del