Canonical Allele Identifier: CA916082619
Community Standard Title: NM_181426.2(CCDC39):c.1244_1261delinsGG (p.Lys415ArgfsTer11)
Gene: CCDC39 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180648266_180648283delinsCC , CM000665.2:g.180648266_180648283delinsCC GRCh38
NC_000003.11:g.180366054_180366071delinsCC , CM000665.1:g.180366054_180366071delinsCC GRCh37
NC_000003.10:g.181848748_181848765delinsCC NCBI36
NG_029581.1:g.36213_36230delinsGG

Transcript Alleles

HGVS Amino-acid Change
NM_181426.2:c.1244_1261delinsGG MANE Select NP_852091.1:p.Lys415ArgfsTer11
ENST00000476379.6:c.1244_1261delinsGG MANE Select ENSP00000417960.2:p.Lys415ArgfsTer11
NM_181426.1:c.1244_1261delinsGG NP_852091.1:p.Lys415ArgfsTer11
ENST00000442201.6:c.1244_1261delinsGG ENSP00000405708.2:p.Lys415ArgfsTer11
ENST00000476379.5:c.1244_1261delinsGG ENSP00000417960.1:p.Lys415ArgfsTer11
ENST00000650641.1:n.1131_1148delinsGG
ENST00000650889.1:n.1635_1652delinsGG
ENST00000651046.1:c.1052_1069delinsGG ENSP00000499175.1:p.Lys351ArgfsTer11
ENST00000651818.1:n.1194_1211delinsGG
ENST00000651922.1:n.569_586delinsGG
ENST00000652024.1:n.1143_1160delinsGG
ENST00000652408.1:n.1381_1398delinsGG