Canonical Allele Identifier: CA2543307288

Gene: CCDC39

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659516_180659517insATTTGAAAGTCACTTTTGTAGCAATATTCAGTAGTTTTGGTAAA , CM000665.2:g.180659516_180659517insATTTGAAAGTCACTTTTGTAGCAATATTCAGTAGTTTTGGTAAA	GRCh38
NC_000003.11:g.180377304_180377305insATTTGAAAGTCACTTTTGTAGCAATATTCAGTAGTTTTGGTAAA , CM000665.1:g.180377304_180377305insATTTGAAAGTCACTTTTGTAGCAATATTCAGTAGTTTTGGTAAA	GRCh37
NC_000003.10:g.181859998_181859999insATTTGAAAGTCACTTTTGTAGCAATATTCAGTAGTTTTGGTAAA	NCBI36
NG_029581.1:g.24979_24980insTTTACCAAAACTACTGAATATTGCTACAAAAGTGACTTTCAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.673_674insTTTACCAAAACTACTGAATATTGCTACAAAAGTGACTTTCAAAT MANE Select	ENSP00000417960.2:p.Lys225IlefsTer6
ENST00000650641.1:n.752_753insTTTACCAAAACTACTGAATATTGCTACAAAAGTGACTTTCAAAT
ENST00000650889.1:n.845_846insTTTACCAAAACTACTGAATATTGCTACAAAAGTGACTTTCAAAT
ENST00000651046.1:c.673_674insTTTACCAAAACTACTGAATATTGCTACAAAAGTGACTTTCAAAT	ENSP00000499175.1:p.Lys225IlefsTer6
ENST00000651818.1:n.815_816insTTTACCAAAACTACTGAATATTGCTACAAAAGTGACTTTCAAAT
ENST00000652024.1:n.764_765insTTTACCAAAACTACTGAATATTGCTACAAAAGTGACTTTCAAAT
ENST00000652408.1:n.810_811insTTTACCAAAACTACTGAATATTGCTACAAAAGTGACTTTCAAAT
ENST00000442201.6:c.673_674insTTTACCAAAACTACTGAATATTGCTACAAAAGTGACTTTCAAAT	ENSP00000405708.2:p.Lys225IlefsTer6
ENST00000476379.5:c.673_674insTTTACCAAAACTACTGAATATTGCTACAAAAGTGACTTTCAAAT	ENSP00000417960.1:p.Lys225IlefsTer6
NM_181426.1:c.673_674insTTTACCAAAACTACTGAATATTGCTACAAAAGTGACTTTCAAAT	NP_852091.1:p.Lys225IlefsTer6
NM_181426.2:c.673_674insTTTACCAAAACTACTGAATATTGCTACAAAAGTGACTTTCAAAT MANE Select	NP_852091.1:p.Lys225IlefsTer6