Canonical Allele Identifier: CA201488
Gene: CCDC39 HGNC NCBI
TTC14 HGNC NCBI

Linked Data

ClinVar Variation Id: 194994
ClinVar RCV Id: RCV000175492 RCV000227740 RCV003221836
dbSNP Id: rs200353947
ExAC: 3:180334077 T / TA
gnomAD v2: 3-180334077-T-TA
gnomAD v3: 3-180616289-T-TA
gnomAD v4: 3-180616289-T-TA
MyVariant Identifiers: chr3:g.180334078dupA (hg19) chr3:g.180334077_180334078insA (hg19) chr3:g.180616290dupA (hg38) chr3:g.180616289_180616290insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.180616290dup , CM000665.2:g.180616290dup GRCh38
NC_000003.11:g.180334078dup , CM000665.1:g.180334078dup GRCh37
NC_000003.10:g.181816772dup NCBI36
NG_029581.1:g.68206dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000476379.6:c.2660dup (CCDC39) MANE Select ENSP00000417960.2:p.Ser888IlefsTer6
ENST00000489868.6:c.176dup (CCDC39) ENSP00000420025.1:p.Ser60IlefsTer5
ENST00000651046.1:c.2468dup (CCDC39) ENSP00000499175.1:p.Ser824IlefsTer6
ENST00000651922.1:n.1985dup (CCDC39)
ENST00000652010.1:n.2736dup (CCDC39)
ENST00000382584.8:c.1775-1090dup (TTC14) ENSP00000372027.4:n.1775-1090dup
ENST00000442201.6:c.2660dup ENSP00000405708.2:p.Ser888IlefsTer6
ENST00000473854.5:c.211dup
ENST00000476379.5:c.*484dup ENSP00000417960.1:n.*484dup
ENST00000489868.5:c.176dup ENSP00000420025.1:p.Ser60IlefsTer5
NM_001288582.1:c.1775-1090dup (TTC14) NP_001275511.1:n.1775-1090dup
NM_181426.1:c.2660dup (CCDC39) NP_852091.1:p.Ser888IlefsTer6
NM_181426.2:c.2660dup (CCDC39) MANE Select NP_852091.1:p.Ser888IlefsTer6
NM_001288582.2:c.1775-1090dup (TTC14) NP_001275511.1:n.1775-1090dup
Search 100 bp 5'
Search 100 bp 3'