Canonical Allele Identifier: CA638494150

Gene: CFAP410

Linked Data

• dbSNP Id: rs1335076920
• gnomAD v2: 21-45752897-C-CT
• gnomAD v4: 21-44333014-C-CT
• MyVariant Identifiers: chr21:g.45752897_45752898insT (hg19) ; chr21:g.44333014_44333015insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333015dup , CM000683.2:g.44333015dup	GRCh38
NC_000021.8:g.45752898dup , CM000683.1:g.45752898dup	GRCh37
NC_000021.7:g.44577326dup	NCBI36
NG_032952.1:g.11388dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.373+18dup MANE Select	ENSP00000344566.4:n.373+18dup
ENST00000325223.7:c.373+18dup	ENSP00000317302.7:n.373+18dup
ENST00000339818.8:c.373+18dup	ENSP00000344566.4:n.373+18dup
ENST00000397956.7:c.373+18dup	ENSP00000381047.3:n.373+18dup
ENST00000462742.1:n.2544+18dup
ENST00000478674.1:n.432+18dup
ENST00000496321.5:n.489+18dup
NM_001271440.1:c.373+18dup	NP_001258369.1:n.373+18dup
NM_001271441.1:c.373+18dup	NP_001258370.1:n.373+18dup
NM_001271442.1:c.250+18dup	NP_001258371.1:n.250+18dup
NM_004928.2:c.373+18dup	NP_004919.1:n.373+18dup
XM_006724051.2:c.448+18dup	XP_006724114.1:n.448+18dup
XM_006724052.2:c.448+18dup	XP_006724115.1:n.448+18dup
XM_006724053.2:c.49+18dup	XP_006724116.1:n.49+18dup
XR_937571.1:n.576+18dup
XM_006724051.3:c.448+18dup	XP_006724114.1:n.448+18dup
XM_006724053.3:c.49+18dup	XP_006724116.1:n.49+18dup
XM_017028470.1:c.577+18dup	XP_016883959.1:n.577+18dup
XM_017028471.1:c.322+18dup	XP_016883960.1:n.322+18dup
XM_017028472.1:c.49+18dup	XP_016883961.1:n.49+18dup
XR_937571.2:n.583+18dup
NM_004928.3:c.373+18dup MANE Select	NP_004919.1:n.373+18dup
NM_001271440.2:c.373+18dup	NP_001258369.1:n.373+18dup
NM_001271441.2:c.373+18dup	NP_001258370.1:n.373+18dup