Canonical Allele Identifier: CA10618063

Gene: CCDC39 TTC14

Linked Data

• ClinVar Variation Id: 344246
• ClinVar RCV Id: RCV000310879
• dbSNP Id: rs886058192
• MyVariant Identifiers: chr3:g.180332177_180332179dupGGG (hg19) ; chr3:g.180332176_180332177insGGG (hg19) ; chr3:g.180614389_180614391dupGGG (hg38) ; chr3:g.180614388_180614389insGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180614389_180614391dup , CM000665.2:g.180614389_180614391dup	GRCh38
NC_000003.11:g.180332177_180332179dup , CM000665.1:g.180332177_180332179dup	GRCh37
NC_000003.10:g.181814871_181814873dup	NCBI36
NG_029581.1:g.70105_70107dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.*530_*532dup (CCDC39) MANE Select	ENSP00000417960.2:n.*530_*532dup
ENST00000489868.6:c.186-527_186-525dup (CCDC39)	ENSP00000420025.1:n.186-527_186-525dup
ENST00000651046.1:c.*530_*532dup (CCDC39)	ENSP00000499175.1:n.*530_*532dup
ENST00000651922.1:n.2681_2683dup (CCDC39)
ENST00000652010.1:n.3432_3434dup (CCDC39)
ENST00000382584.8:c.1775-2991_1775-2989dup (TTC14)	ENSP00000372027.4:n.1775-2991_1775-2989dup
ENST00000473854.5:c.303-527_303-525dup
ENST00000476379.5:c.*1180_*1182dup	ENSP00000417960.1:n.*1180_*1182dup
ENST00000489868.5:c.186-527_186-525dup	ENSP00000420025.1:n.186-527_186-525dup
NM_001288582.1:c.1775-2991_1775-2989dup (TTC14)	NP_001275511.1:n.1775-2991_1775-2989dup
NM_181426.1:c.*530_*532dup (CCDC39)	NP_852091.1:n.*530_*532dup
NM_181426.2:c.*530_*532dup (CCDC39) MANE Select	NP_852091.1:n.*530_*532dup
NM_001288582.2:c.1775-2991_1775-2989dup (TTC14)	NP_001275511.1:n.1775-2991_1775-2989dup