Canonical Allele Identifier: CA10053717

Gene: CFAP410

Linked Data

• ClinVar Variation Id: 425277
• ClinVar RCV Id: RCV000488359 ; RCV001199663
• dbSNP Id: rs769039082
• ExAC: 21:45752942 GGCAGGGTGCGCA / G
• gnomAD v2: 21-45752942-GGCAGGGTGCGCA-G
• gnomAD v4: 21-44333059-GGCAGGGTGCGCA-G
• MyVariant Identifiers: chr21:g.45752943_45752954del (hg19) ; chr21:g.44333060_44333071del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44333063_44333074del , CM000683.2:g.44333063_44333074del	GRCh38
NC_000021.8:g.45752946_45752957del , CM000683.1:g.45752946_45752957del	GRCh37
NC_000021.7:g.44577374_44577385del	NCBI36
NG_032952.1:g.11332_11343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339818.9:c.335_346del MANE Select	ENSP00000344566.4:p.Leu112_Leu115del
ENST00000325223.7:c.335_346del	ENSP00000317302.7:p.Leu112_Leu115del
ENST00000339818.8:c.335_346del	ENSP00000344566.4:p.Leu112_Leu115del
ENST00000397956.7:c.335_346del	ENSP00000381047.3:p.Leu112_Leu115del
ENST00000462742.1:n.2506_2517del
ENST00000478674.1:n.394_405del
ENST00000496321.5:n.451_462del
NM_001271440.1:c.335_346del	NP_001258369.1:p.Leu112_Leu115del
NM_001271441.1:c.335_346del	NP_001258370.1:p.Leu112_Leu115del
NM_001271442.1:c.212_223del	NP_001258371.1:p.Leu71_Leu74del
NM_004928.2:c.335_346del	NP_004919.1:p.Leu112_Leu115del
XM_006724051.2:c.410_421del	XP_006724114.1:p.Leu137_Leu140del
XM_006724052.2:c.410_421del	XP_006724115.1:p.Leu137_Leu140del
XM_006724053.2:c.11_22del	XP_006724116.1:p.Leu4_Leu7del
XR_937571.1:n.538_549del
XM_006724051.3:c.410_421del	XP_006724114.1:p.Leu137_Leu140del
XM_006724053.3:c.11_22del	XP_006724116.1:p.Leu4_Leu7del
XM_017028470.1:c.539_550del	XP_016883959.1:p.Leu180_Leu183del
XM_017028471.1:c.284_295del	XP_016883960.1:p.Leu95_Leu98del
XM_017028472.1:c.11_22del	XP_016883961.1:p.Leu4_Leu7del
XR_937571.2:n.545_556del
NM_004928.3:c.335_346del MANE Select	NP_004919.1:p.Leu112_Leu115del
NM_001271440.2:c.335_346del	NP_001258369.1:p.Leu112_Leu115del
NM_001271441.2:c.335_346del	NP_001258370.1:p.Leu112_Leu115del