Canonical Allele Identifier: CA2580098823
Gene: CFAP410 HGNC NCBI

Linked Data

ClinVar Variation Id: 2042242
ClinVar RCV Id: RCV002895502

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44333105_44333121delinsACGGGTTCGTGCACGGGT , CM000683.2:g.44333105_44333121delinsACGGGTTCGTGCACGGGT GRCh38
NC_000021.8:g.45752988_45753004delinsACGGGTTCGTGCACGGGT , CM000683.1:g.45752988_45753004delinsACGGGTTCGTGCACGGGT GRCh37
NC_000021.7:g.44577416_44577432delinsACGGGTTCGTGCACGGGT NCBI36
NG_032952.1:g.11282_11298delinsACCCGTGCACGAACCCGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000339818.9:c.285_301delinsACCCGTGCACGAACCCGT MANE Select ENSP00000344566.4:p.Glu96ProfsTer?
ENST00000325223.7:c.285_301delinsACCCGTGCACGAACCCGT ENSP00000317302.7:p.Glu96ProfsTer?
ENST00000339818.8:c.285_301delinsACCCGTGCACGAACCCGT ENSP00000344566.4:p.Glu96ProfsTer?
ENST00000397956.7:c.285_301delinsACCCGTGCACGAACCCGT ENSP00000381047.3:p.Glu96ProfsTer?
ENST00000462742.1:n.2456_2472delinsACCCGTGCACGAACCCGT
ENST00000478674.1:n.344_360delinsACCCGTGCACGAACCCGT
ENST00000496321.5:n.401_417delinsACCCGTGCACGAACCCGT
NM_001271440.1:c.285_301delinsACCCGTGCACGAACCCGT NP_001258369.1:p.Glu96ProfsTer?
NM_001271441.1:c.285_301delinsACCCGTGCACGAACCCGT NP_001258370.1:p.Glu96ProfsTer?
NM_001271442.1:c.162_178delinsACCCGTGCACGAACCCGT NP_001258371.1:p.Glu55ProfsTer?
NM_004928.2:c.285_301delinsACCCGTGCACGAACCCGT NP_004919.1:p.Glu96ProfsTer?
XM_006724051.2:c.360_376delinsACCCGTGCACGAACCCGT XP_006724114.1:p.Glu121ProfsTer?
XM_006724052.2:c.360_376delinsACCCGTGCACGAACCCGT XP_006724115.1:p.Glu121ProfsTer?
XM_006724053.2:c.-40_-24delinsACCCGTGCACGAACCCGT XP_006724116.1:n.-40_-24delinsACCCGTGCACGAACCCGT
XR_937571.1:n.488_504delinsACCCGTGCACGAACCCGT
XM_006724051.3:c.360_376delinsACCCGTGCACGAACCCGT XP_006724114.1:p.Glu121ProfsTer?
XM_006724053.3:c.-40_-24delinsACCCGTGCACGAACCCGT XP_006724116.1:n.-40_-24delinsACCCGTGCACGAACCCGT
XM_017028470.1:c.489_505delinsACCCGTGCACGAACCCGT XP_016883959.1:p.Glu164ProfsTer?
XM_017028471.1:c.234_250delinsACCCGTGCACGAACCCGT XP_016883960.1:p.Glu79ProfsTer?
XM_017028472.1:c.-40_-24delinsACCCGTGCACGAACCCGT XP_016883961.1:n.-40_-24delinsACCCGTGCACGAACCCGT
XR_937571.2:n.495_511delinsACCCGTGCACGAACCCGT
NM_004928.3:c.285_301delinsACCCGTGCACGAACCCGT MANE Select NP_004919.1:p.Glu96ProfsTer?
NM_001271440.2:c.285_301delinsACCCGTGCACGAACCCGT NP_001258369.1:p.Glu96ProfsTer?
NM_001271441.2:c.285_301delinsACCCGTGCACGAACCCGT NP_001258370.1:p.Glu96ProfsTer?