Canonical Allele Identifier: CA10618066

Gene: CCDC39 TTC14

Linked Data

• ClinVar Variation Id: 344249
• ClinVar RCV Id: RCV000266387
• dbSNP Id: rs1553800565
• gnomAD v3: 3-180614391-G-GT
• gnomAD v4: 3-180614391-G-GT
• MyVariant Identifiers: chr3:g.180332180dupT (hg19) ; chr3:g.180332179_180332180insT (hg19) ; chr3:g.180614392dupT (hg38) ; chr3:g.180614391_180614392insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.180614392dup , CM000665.2:g.180614392dup	GRCh38
NC_000003.11:g.180332180dup , CM000665.1:g.180332180dup	GRCh37
NC_000003.10:g.181814874dup	NCBI36
NG_029581.1:g.70104dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476379.6:c.*529dup (CCDC39) MANE Select	ENSP00000417960.2:n.*529dup
ENST00000489868.6:c.186-528dup (CCDC39)	ENSP00000420025.1:n.186-528dup
ENST00000651046.1:c.*529dup (CCDC39)	ENSP00000499175.1:n.*529dup
ENST00000651922.1:n.2680dup (CCDC39)
ENST00000652010.1:n.3431dup (CCDC39)
ENST00000382584.8:c.1775-2988dup (TTC14)	ENSP00000372027.4:n.1775-2988dup
ENST00000473854.5:c.303-528dup
ENST00000476379.5:c.*1179dup	ENSP00000417960.1:n.*1179dup
ENST00000489868.5:c.186-528dup	ENSP00000420025.1:n.186-528dup
NM_001288582.1:c.1775-2988dup (TTC14)	NP_001275511.1:n.1775-2988dup
NM_181426.1:c.*529dup (CCDC39)	NP_852091.1:n.*529dup
NM_181426.2:c.*529dup (CCDC39) MANE Select	NP_852091.1:n.*529dup
NM_001288582.2:c.1775-2988dup (TTC14)	NP_001275511.1:n.1775-2988dup