Canonical Allele Identifier: CA2580098830
Gene: CFAP410 HGNC NCBI

Linked Data

ClinVar Variation Id: 2024776
ClinVar RCV Id: RCV002847946

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44333238_44333242dup , CM000683.2:g.44333238_44333242dup GRCh38
NC_000021.8:g.45753121_45753125dup , CM000683.1:g.45753121_45753125dup GRCh37
NC_000021.7:g.44577549_44577553dup NCBI36
NG_032952.1:g.11161_11165dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000339818.9:c.164_168dup MANE Select ENSP00000344566.4:p.Pro57TrpfsTer4
ENST00000325223.7:c.164_168dup ENSP00000317302.7:p.Pro57TrpfsTer4
ENST00000339818.8:c.164_168dup ENSP00000344566.4:p.Pro57TrpfsTer4
ENST00000397956.7:c.164_168dup ENSP00000381047.3:p.Pro57TrpfsTer4
ENST00000462742.1:n.2335_2339dup
ENST00000478674.1:n.223_227dup
ENST00000496321.5:n.280_284dup
NM_001271440.1:c.164_168dup NP_001258369.1:p.Pro57TrpfsTer4
NM_001271441.1:c.164_168dup NP_001258370.1:p.Pro57TrpfsTer4
NM_001271442.1:c.41_45dup NP_001258371.1:p.Pro16TrpfsTer4
NM_004928.2:c.164_168dup NP_004919.1:p.Pro57TrpfsTer4
XM_006724051.2:c.239_243dup XP_006724114.1:p.Pro82TrpfsTer4
XM_006724052.2:c.239_243dup XP_006724115.1:p.Pro82TrpfsTer4
XM_006724053.2:c.-161_-157dup XP_006724116.1:n.-161_-157dup
XR_937571.1:n.367_371dup
XM_006724051.3:c.239_243dup XP_006724114.1:p.Pro82TrpfsTer4
XM_006724053.3:c.-161_-157dup XP_006724116.1:n.-161_-157dup
XM_017028470.1:c.368_372dup XP_016883959.1:p.Pro125TrpfsTer4
XM_017028471.1:c.113_117dup XP_016883960.1:p.Pro40TrpfsTer4
XM_017028472.1:c.-161_-157dup XP_016883961.1:n.-161_-157dup
XR_937571.2:n.374_378dup
NM_004928.3:c.164_168dup MANE Select NP_004919.1:p.Pro57TrpfsTer4
NM_001271440.2:c.164_168dup NP_001258369.1:p.Pro57TrpfsTer4
NM_001271441.2:c.164_168dup NP_001258370.1:p.Pro57TrpfsTer4