Canonical Allele Identifier: CA645369796
Gene: CFAP410 HGNC NCBI

Linked Data

ClinVar Variation Id: 428575
ClinVar RCV Id: RCV000492056
dbSNP Id: rs1114167893
MyVariant Identifiers: chr21:g.45755681del (hg19) chr21:g.44335798del (hg38)
PubMed: PMID:23105016 PMID:26167768
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44335798del , CM000683.2:g.44335798del GRCh38
NC_000021.8:g.45755681del , CM000683.1:g.45755681del GRCh37
NC_000021.7:g.44580109del NCBI36
NG_032952.1:g.8605del

Transcript Alleles

HGVS Amino-acid change
ENST00000339818.9:c.103del MANE Select ENSP00000344566.4:p.Ile35PhefsTer10
ENST00000325223.7:c.103del ENSP00000317302.7:p.Ile35PhefsTer10
ENST00000339818.8:c.103del ENSP00000344566.4:p.Ile35PhefsTer10
ENST00000397956.7:c.103del ENSP00000381047.3:p.Ile35PhefsTer10
ENST00000462742.1:n.577del
ENST00000496321.5:n.228del
NM_001271440.1:c.103del NP_001258369.1:p.Ile35PhefsTer10
NM_001271441.1:c.103del NP_001258370.1:p.Ile35PhefsTer10
NM_001271442.1:c.-12del NP_001258371.1:n.-12del
NM_004928.2:c.103del NP_004919.1:p.Ile35PhefsTer10
XM_006724051.2:c.218+1851del XP_006724114.1:n.218+1851del
XM_006724052.2:c.218+1851del XP_006724115.1:n.218+1851del
XM_006724053.2:c.-182+1851del XP_006724116.1:n.-182+1851del
XR_937571.1:n.306del
XM_006724051.3:c.218+1851del XP_006724114.1:n.218+1851del
XM_006724053.3:c.-182+1851del XP_006724116.1:n.-182+1851del
XM_017028470.1:c.307del XP_016883959.1:p.Ile103PhefsTer10
XM_017028471.1:c.92+1851del XP_016883960.1:n.92+1851del
XM_017028472.1:c.-182+1851del XP_016883961.1:n.-182+1851del
XR_937571.2:n.313del
NM_004928.3:c.103del MANE Select NP_004919.1:p.Ile35PhefsTer10
NM_001271440.2:c.103del NP_001258369.1:p.Ile35PhefsTer10
NM_001271441.2:c.103del NP_001258370.1:p.Ile35PhefsTer10
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