Canonical Allele Identifier: CA1139666896

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 961212
• ClinVar RCV Id: RCV001234868
• dbSNP Id: rs2047686121

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333222_44333241dup , CM000683.2:g.44333222_44333241dup	GRCh38
NC_000021.8:g.45753105_45753124dup , CM000683.1:g.45753105_45753124dup	GRCh37
NC_000021.7:g.44577533_44577552dup	NCBI36
NG_032952.1:g.11162_11181dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.165_184dup MANE Select	ENSP00000344566.4:p.Gln62ArgfsTer4
ENST00000325223.7:c.165_184dup	ENSP00000317302.7:p.Gln62ArgfsTer4
ENST00000339818.8:c.165_184dup	ENSP00000344566.4:p.Gln62ArgfsTer4
ENST00000397956.7:c.165_184dup	ENSP00000381047.3:p.Gln62ArgfsTer4
ENST00000462742.1:n.2336_2355dup
ENST00000478674.1:n.224_243dup
ENST00000496321.5:n.281_300dup
NM_001271440.1:c.165_184dup	NP_001258369.1:p.Gln62ArgfsTer4
NM_001271441.1:c.165_184dup	NP_001258370.1:p.Gln62ArgfsTer4
NM_001271442.1:c.42_61dup	NP_001258371.1:p.Gln21ArgfsTer4
NM_004928.2:c.165_184dup	NP_004919.1:p.Gln62ArgfsTer4
XM_006724051.2:c.240_259dup	XP_006724114.1:p.Gln87ArgfsTer4
XM_006724052.2:c.240_259dup	XP_006724115.1:p.Gln87ArgfsTer4
XM_006724053.2:c.-160_-141dup	XP_006724116.1:n.-160_-141dup
XR_937571.1:n.368_387dup
XM_006724051.3:c.240_259dup	XP_006724114.1:p.Gln87ArgfsTer4
XM_006724053.3:c.-160_-141dup	XP_006724116.1:n.-160_-141dup
XM_017028470.1:c.369_388dup	XP_016883959.1:p.Gln130ArgfsTer4
XM_017028471.1:c.114_133dup	XP_016883960.1:p.Gln45ArgfsTer4
XM_017028472.1:c.-160_-141dup	XP_016883961.1:n.-160_-141dup
XR_937571.2:n.375_394dup
NM_004928.3:c.165_184dup MANE Select	NP_004919.1:p.Gln62ArgfsTer4
NM_001271440.2:c.165_184dup	NP_001258369.1:p.Gln62ArgfsTer4
NM_001271441.2:c.165_184dup	NP_001258370.1:p.Gln62ArgfsTer4