Canonical Allele Identifier: CA7310015
Gene: CCDC88C HGNC NCBI

Linked Data

ClinVar Variation Id: 2222727
ClinVar RCV Id: RCV002707120 RCV003561077
dbSNP Id: rs776229233
ExAC: 14:91804342 T / TC
gnomAD v2: 14-91804342-T-TC
gnomAD v3: 14-91337998-T-TC
gnomAD v4: 14-91337998-T-TC
MyVariant Identifiers: chr14:g.91804342_91804343insC (hg19) chr14:g.91337998_91337999insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91338001dup , CM000676.2:g.91338001dup GRCh38
NC_000014.8:g.91804345dup , CM000676.1:g.91804345dup GRCh37
NC_000014.7:g.90874098dup NCBI36
NG_033118.1:g.84846dup
NG_033118.2:g.84846dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.1050+6dup MANE Select ENSP00000374507.6:n.1050+6dup
ENST00000389857.10:c.1050+6dup ENSP00000374507.6:n.1050+6dup
NM_001080414.3:c.1050+6dup NP_001073883.2:n.1050+6dup
XM_005267691.3:c.1050+6dup XP_005267748.1:n.1050+6dup
XM_011536796.1:c.942+6dup XP_011535098.1:n.942+6dup
XR_429316.2:n.1178+6dup
XR_943459.1:n.1178+6dup
XM_005267691.5:c.1050+6dup XP_005267748.1:n.1050+6dup
XM_011536796.2:c.942+6dup XP_011535098.1:n.942+6dup
XM_017021335.2:c.1050+6dup XP_016876824.1:n.1050+6dup
XM_017021337.2:c.1050+6dup XP_016876826.1:n.1050+6dup
XR_429316.4:n.1176+6dup
NM_001080414.4:c.1050+6dup MANE Select NP_001073883.2:n.1050+6dup
Search 100 bp 5'
Search 100 bp 3'