Canonical Allele Identifier: CA903357783

Gene: CCDC39

Linked Data

• dbSNP Id: rs1320502614
• MyVariant Identifiers: chr3:g.180377255_180377256del (hg19) ; chr3:g.180659467_180659468del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180659468_180659469del , CM000665.2:g.180659468_180659469del	GRCh38
NC_000003.11:g.180377256_180377257del , CM000665.1:g.180377256_180377257del	GRCh37
NC_000003.10:g.181859950_181859951del	NCBI36
NG_029581.1:g.25028_25029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.722_723del MANE Select	ENSP00000417960.2:p.Ile241ArgfsTer2
ENST00000650641.1:n.801_802del
ENST00000650889.1:n.894_895del
ENST00000651046.1:c.722_723del	ENSP00000499175.1:p.Ile241ArgfsTer2
ENST00000651818.1:n.864_865del
ENST00000652024.1:n.813_814del
ENST00000652408.1:n.859_860del
ENST00000442201.6:c.722_723del	ENSP00000405708.2:p.Ile241ArgfsTer2
ENST00000476379.5:c.722_723del	ENSP00000417960.1:p.Ile241ArgfsTer2
NM_181426.1:c.722_723del	NP_852091.1:p.Ile241ArgfsTer2
NM_181426.2:c.722_723del MANE Select	NP_852091.1:p.Ile241ArgfsTer2