Canonical Allele Identifier: CA321784678

Gene: CFAP410

Linked Data

• dbSNP Id: rs1048942652
• gnomAD v2: 21-45752749-GGA-G
• gnomAD v3: 21-44332866-GGA-G
• gnomAD v4: 21-44332866-GGA-G
• MyVariant Identifiers: chr21:g.45752750_45752751del (hg19) ; chr21:g.44332867_44332868del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44332869_44332870del , CM000683.2:g.44332869_44332870del	GRCh38
NC_000021.8:g.45752752_45752753del , CM000683.1:g.45752752_45752753del	GRCh37
NC_000021.7:g.44577180_44577181del	NCBI36
NG_032952.1:g.11535_11536del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.373+165_373+166del MANE Select	ENSP00000344566.4:n.373+165_373+166del
ENST00000325223.7:c.373+165_373+166del	ENSP00000317302.7:n.373+165_373+166del
ENST00000339818.8:c.373+165_373+166del	ENSP00000344566.4:n.373+165_373+166del
ENST00000397956.7:c.373+165_373+166del	ENSP00000381047.3:n.373+165_373+166del
ENST00000462742.1:n.2544+165_2544+166del
ENST00000478674.1:n.432+165_432+166del
ENST00000496321.5:n.489+165_489+166del
NM_001271440.1:c.373+165_373+166del	NP_001258369.1:n.373+165_373+166del
NM_001271441.1:c.373+165_373+166del	NP_001258370.1:n.373+165_373+166del
NM_001271442.1:c.250+165_250+166del	NP_001258371.1:n.250+165_250+166del
NM_004928.2:c.373+165_373+166del	NP_004919.1:n.373+165_373+166del
XM_006724051.2:c.448+165_448+166del	XP_006724114.1:n.448+165_448+166del
XM_006724052.2:c.448+165_448+166del	XP_006724115.1:n.448+165_448+166del
XM_006724053.2:c.49+165_49+166del	XP_006724116.1:n.49+165_49+166del
XR_937571.1:n.576+165_576+166del
XM_006724051.3:c.448+165_448+166del	XP_006724114.1:n.448+165_448+166del
XM_006724053.3:c.49+165_49+166del	XP_006724116.1:n.49+165_49+166del
XM_017028470.1:c.577+165_577+166del	XP_016883959.1:n.577+165_577+166del
XM_017028471.1:c.322+165_322+166del	XP_016883960.1:n.322+165_322+166del
XM_017028472.1:c.49+165_49+166del	XP_016883961.1:n.49+165_49+166del
XR_937571.2:n.583+165_583+166del
NM_004928.3:c.373+165_373+166del MANE Select	NP_004919.1:n.373+165_373+166del
NM_001271440.2:c.373+165_373+166del	NP_001258369.1:n.373+165_373+166del
NM_001271441.2:c.373+165_373+166del	NP_001258370.1:n.373+165_373+166del